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HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [ Homo sapiens (human) ]

Gene ID: 89781, updated on 11-Apr-2024

Summary

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Official Symbol
HPS4provided by HGNC
Official Full Name
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2provided by HGNC
Primary source
HGNC:HGNC:15844
See related
Ensembl:ENSG00000100099 MIM:606682; AllianceGenome:HGNC:15844
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LE; BLOC3S2
Summary
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in testis (RPKM 8.6), skin (RPKM 8.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
22q12.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26443109..26483863, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26905547..26946273, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26839075..26879829, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 495 Neighboring gene NANOG hESC enhancer GRCh37_chr22:26800879-26801395 Neighboring gene RPS3A pseudogene 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13568 Neighboring gene Sharpr-MPRA regulatory region 14748 Neighboring gene aspartate beta-hydroxylase domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:26836513-26836669 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26837982-26839181 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:26866926-26868125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13569 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:26889254-26890453 Neighboring gene SRR1 domain containing Neighboring gene tuftelin interacting protein 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13570 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:26902046-26903245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26908724-26909261 Neighboring gene TFIP11 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. Kuratomi G, et al. BMC Psychiatry, 2013 Oct 30. PMID 24168225, Free PMC Article
  2. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Wei ML. Pigment Cell Res, 2006 Feb. PMID 16420244
  3. The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome. Hoffman-Sommer M, et al. Traffic, 2005 Jul. PMID 15941405
  4. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Bachli EB, et al. Am J Med Genet A, 2004 Jun 1. PMID 15108212
  5. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Hussain N, et al. Clin Gastroenterol Hepatol, 2006 Jan. PMID 16431308

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38.
    Title: BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
  2. These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia.
    Title: Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
  3. These results suggest that the HPS4 gene confers a susceptibility to schizophrenia.
    Title: An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.
  4. Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
    Title: Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
  5. Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles.
    Title: Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
  7. Observational study of genotype prevalence. (HuGE Navigator)
    Title: Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.
  8. HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3)
    Title: Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
  9. Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis.
    Title: Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
  10. observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles
    Title: BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hermansky-Pudlak syndrome 4
MedGen: C3484357 OMIM: 614073 GeneReviews: Hermansky-Pudlak Syndrome
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1667

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood coagulation IEA
Inferred from Electronic Annotation
more info
  
involved_in hemostasis TAS
Traceable Author Statement
more info
 PubMed 
involved_in intracellular transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lysosome organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in melanosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in melanosome assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in melanosome assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in platelet dense granule organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of eye pigmentation TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
involved_in protein stabilization IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in protein targeting IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein targeting IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of BLOC-3 complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of BLOC-3 complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in melanosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in platelet dense granule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
BLOC-3 complex member HPS4
Names
light-ear protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009763.2 RefSeqGene

    Range
    5001..37982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_590

mRNA and Protein(s)

  1. NM_001349896.1 → NP_001336825.1  BLOC-3 complex member HPS4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform a.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000338457.5, ENST00000336873.9
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  2. NM_001349898.2 → NP_001336827.1  BLOC-3 complex member HPS4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform a.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000514223.1, ENST00000473782.2
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  3. NM_001349899.2 → NP_001336828.1  BLOC-3 complex member HPS4 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) encodes isoform a.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  4. NM_001349900.2 → NP_001336829.1  BLOC-3 complex member HPS4 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) encodes isoform c.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93140.1
    UniProtKB/TrEMBL
    F1LLU8, Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:432 → 549
    dnaA; chromosomal replication initiation protein; Provisional

  5. NM_001349901.1 → NP_001336830.1  BLOC-3 complex member HPS4 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) encodes isoform c.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93140.1
    UniProtKB/TrEMBL
    F1LLU8, Q6P1K3
    Related
    ENSP00000415081.3, ENST00000422379.3
    Conserved Domains (1) summary
    cl28271
    Location:432 → 549
    dnaA; chromosomal replication initiation protein; Provisional

  6. NM_001349902.1 → NP_001336831.1  BLOC-3 complex member HPS4 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) encodes isoform d.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93138.1
    UniProtKB/TrEMBL
    A0A8V8TMY3, Q6P1K3
    Related
    ENSP00000514237.1, ENST00000699250.1
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  7. NM_001349903.2 → NP_001336832.1  BLOC-3 complex member HPS4 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) encodes isoform d.
    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93138.1
    UniProtKB/TrEMBL
    A0A8V8TMY3, Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  8. NM_001349904.2 → NP_001336833.1  BLOC-3 complex member HPS4 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) encodes isoform e.
    Source sequence(s)
    Z99714
    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  9. NM_001349905.1 → NP_001336834.1  BLOC-3 complex member HPS4 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) encodes isoform e.
    Source sequence(s)
    Z99714
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENST00000699228.1
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  10. NM_001410832.1 → NP_001397761.1  BLOC-3 complex member HPS4 isoform f

    Status: REVIEWED

    Source sequence(s)
    Z99714
    Consensus CDS
    CCDS93139.1
    UniProtKB/TrEMBL
    A0A8V8TN06

  11. NM_022081.6 → NP_071364.4  BLOC-3 complex member HPS4 isoform a

    See identical proteins and their annotated locations for NP_071364.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AK290211, AY043416, BC065030, BQ185676, Z99714
    Consensus CDS
    CCDS13835.1
    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000381213.2, ENST00000398145.7
    Conserved Domains (1) summary
    cl28271
    Location:414 → 531
    dnaA; chromosomal replication initiation protein; Provisional

  12. NM_152841.2 → NP_690054.1  BLOC-3 complex member HPS4 isoform b

    See identical proteins and their annotated locations for NP_690054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AL365512, BQ185676, Z99714
    Consensus CDS
    CCDS46677.1
    UniProtKB/TrEMBL
    Q6P1K3
    Related
    ENSP00000384185.3, ENST00000402105.7
    Conserved Domains (1) summary
    PRK14086
    Location:409 → 526
    dnaA; chromosomal replication initiation protein; Provisional

RNA

  1. NR_073135.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site at the 5' end and at an internal region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL365512, BC028625, BC050285, BQ185676, Z99714
    Related
    ENST00000699237.1

  2. NR_073136.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs at the 5' end and contains multiple internal differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AY043416, BC028625, BC035614, BQ185676, Z99714

  3. NR_146311.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699246.1

  4. NR_146312.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699238.1

  5. NR_146313.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699243.1

  6. NR_146314.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714
    Related
    ENST00000699240.1

  7. NR_146315.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714

  8. NR_146316.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    Z99714

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    26443109..26483863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441572.1 → XP_047297528.1  BLOC-3 complex member HPS4 isoform X7

  2. XM_047441580.1 → XP_047297536.1  BLOC-3 complex member HPS4 isoform X9

  3. XM_047441579.1 → XP_047297535.1  BLOC-3 complex member HPS4 isoform X9

  4. XM_047441574.1 → XP_047297530.1  BLOC-3 complex member HPS4 isoform X7

  5. XM_047441571.1 → XP_047297527.1  BLOC-3 complex member HPS4 isoform X7

  6. XM_047441578.1 → XP_047297534.1  BLOC-3 complex member HPS4 isoform X9

  7. XM_047441573.1 → XP_047297529.1  BLOC-3 complex member HPS4 isoform X7

  8. XM_047441576.1 → XP_047297532.1  BLOC-3 complex member HPS4 isoform X8

  9. XM_011530486.3 → XP_011528788.1  BLOC-3 complex member HPS4 isoform X1

    See identical proteins and their annotated locations for XP_011528788.1

    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    PRK14086
    Location:458 → 575
    dnaA; chromosomal replication initiation protein; Provisional

  10. XM_047441583.1 → XP_047297539.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    A0A8V8TMY3

  11. XM_047441564.1 → XP_047297520.1  BLOC-3 complex member HPS4 isoform X4

    UniProtKB/Swiss-Prot
    B1AHQ4, Q5H8V6, Q96LX6, Q9BY93, Q9NQG7, Q9UH37, Q9UH38

  12. XM_047441563.1 → XP_047297519.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    F1LLU8

  13. XM_047441582.1 → XP_047297538.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    A0A8V8TMY3

  14. XM_047441577.1 → XP_047297533.1  BLOC-3 complex member HPS4 isoform X8

  15. XM_047441561.1 → XP_047297517.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    F1LLU8
    Related
    ENSP00000514231.1, ENST00000699242.1

  16. XM_047441575.1 → XP_047297531.1  BLOC-3 complex member HPS4 isoform X8

  17. XM_011530490.4 → XP_011528792.1  BLOC-3 complex member HPS4 isoform X2

    UniProtKB/TrEMBL
    Q6P1K3
    Conserved Domains (1) summary
    PRK14086
    Location:440 → 557
    dnaA; chromosomal replication initiation protein; Provisional

  18. XM_047441581.1 → XP_047297537.1  BLOC-3 complex member HPS4 isoform X10

    UniProtKB/TrEMBL
    A0A8V8TMY3

  19. XM_047441562.1 → XP_047297518.1  BLOC-3 complex member HPS4 isoform X3

    UniProtKB/TrEMBL
    F1LLU8

  20. XM_011530496.3 → XP_011528798.1  BLOC-3 complex member HPS4 isoform X13

    See identical proteins and their annotated locations for XP_011528798.1

    UniProtKB/TrEMBL
    B3KTD7
    Conserved Domains (1) summary
    PRK14086
    Location:194 → 311
    dnaA; chromosomal replication initiation protein; Provisional

  21. XM_011530495.3 → XP_011528797.1  BLOC-3 complex member HPS4 isoform X12

    See identical proteins and their annotated locations for XP_011528797.1

    UniProtKB/TrEMBL
    B3KTD7
    Conserved Domains (1) summary
    PRK14086
    Location:243 → 360
    dnaA; chromosomal replication initiation protein; Provisional

  22. XM_017029053.2 → XP_016884542.1  BLOC-3 complex member HPS4 isoform X11

  23. XM_047441584.1 → XP_047297540.1  BLOC-3 complex member HPS4 isoform X14

    UniProtKB/TrEMBL
    A0A8V8TPB3
    Related
    ENSP00000514224.1, ENST00000699235.1

  24. XM_047441568.1 → XP_047297524.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    A0A8V8TN06
    Related
    ENSP00000514238.1, ENST00000699251.1

  25. XM_047441566.1 → XP_047297522.1  BLOC-3 complex member HPS4 isoform X5

  26. XM_047441567.1 → XP_047297523.1  BLOC-3 complex member HPS4 isoform X5

  27. XM_017029046.3 → XP_016884535.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    A0A8V8TN06, Q6P1K3

  28. XM_047441565.1 → XP_047297521.1  BLOC-3 complex member HPS4 isoform X5

  29. XM_047441569.1 → XP_047297525.1  BLOC-3 complex member HPS4 isoform X6

    UniProtKB/TrEMBL
    A0A8V8TN06

RNA

  1. XR_001755364.2 RNA Sequence

  2. XR_007067985.1 RNA Sequence

  3. XR_007067983.1 RNA Sequence

  4. XR_007067986.1 RNA Sequence

  5. XR_007067987.1 RNA Sequence

  6. XR_007067984.1 RNA Sequence

  7. XR_007067989.1 RNA Sequence

  8. XR_007067988.1 RNA Sequence

  9. XR_001755361.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    26905547..26946273 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326103.1 → XP_054182078.1  BLOC-3 complex member HPS4 isoform X9

  2. XM_054326102.1 → XP_054182077.1  BLOC-3 complex member HPS4 isoform X9

  3. XM_054326101.1 → XP_054182076.1  BLOC-3 complex member HPS4 isoform X9

  4. XM_054326097.1 → XP_054182072.1  BLOC-3 complex member HPS4 isoform X7

  5. XM_054326099.1 → XP_054182074.1  BLOC-3 complex member HPS4 isoform X8

  6. XM_054326081.1 → XP_054182056.1  BLOC-3 complex member HPS4 isoform X1

  7. XM_054326106.1 → XP_054182081.1  BLOC-3 complex member HPS4 isoform X10

  8. XM_054326090.1 → XP_054182065.1  BLOC-3 complex member HPS4 isoform X4

    UniProtKB/TrEMBL
    A8K2E6

  9. XM_054326089.1 → XP_054182064.1  BLOC-3 complex member HPS4 isoform X3

  10. XM_054326084.1 → XP_054182059.1  BLOC-3 complex member HPS4 isoform X1

  11. XM_054326105.1 → XP_054182080.1  BLOC-3 complex member HPS4 isoform X10

  12. XM_054326100.1 → XP_054182075.1  BLOC-3 complex member HPS4 isoform X8

  13. XM_054326087.1 → XP_054182062.1  BLOC-3 complex member HPS4 isoform X3

  14. XM_054326082.1 → XP_054182057.1  BLOC-3 complex member HPS4 isoform X1

  15. XM_054326098.1 → XP_054182073.1  BLOC-3 complex member HPS4 isoform X8

  16. XM_054326085.1 → XP_054182060.1  BLOC-3 complex member HPS4 isoform X2

  17. XM_054326080.1 → XP_054182055.1  BLOC-3 complex member HPS4 isoform X1

  18. XM_054326104.1 → XP_054182079.1  BLOC-3 complex member HPS4 isoform X10

  19. XM_054326088.1 → XP_054182063.1  BLOC-3 complex member HPS4 isoform X3

  20. XM_054326086.1 → XP_054182061.1  BLOC-3 complex member HPS4 isoform X2

  21. XM_054326083.1 → XP_054182058.1  BLOC-3 complex member HPS4 isoform X1

  22. XM_054326095.1 → XP_054182070.1  BLOC-3 complex member HPS4 isoform X6

  23. XM_054326092.1 → XP_054182067.1  BLOC-3 complex member HPS4 isoform X5

  24. XM_054326093.1 → XP_054182068.1  BLOC-3 complex member HPS4 isoform X5

  25. XM_054326094.1 → XP_054182069.1  BLOC-3 complex member HPS4 isoform X6

  26. XM_054326091.1 → XP_054182066.1  BLOC-3 complex member HPS4 isoform X5

  27. XM_054326096.1 → XP_054182071.1  BLOC-3 complex member HPS4 isoform X6

RNA

  1. XR_008485429.1 RNA Sequence

  2. XR_008485424.1 RNA Sequence

  3. XR_008485422.1 RNA Sequence

  4. XR_008485425.1 RNA Sequence

  5. XR_008485426.1 RNA Sequence

  6. XR_008485423.1 RNA Sequence

  7. XR_008485428.1 RNA Sequence

  8. XR_008485427.1 RNA Sequence

  9. XR_008485421.1 RNA Sequence

  10. XR_008485420.1 RNA Sequence

  11. XR_008485419.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152840.1: Suppressed sequence

    Description
    NM_152840.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

  2. NM_152842.1: Suppressed sequence

    Description
    NM_152842.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

  3. NM_152843.1: Suppressed sequence

    Description
    NM_152843.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NQG7.2 GenPept UniProtKB/Swiss-Prot:Q9NQG7

Gene LinkOut

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