U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [ Homo sapiens (human) ]

Gene ID: 3257, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
HPS1provided by HGNC
Official Full Name
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1provided by HGNC
Primary source
HGNC:HGNC:5163
See related
Ensembl:ENSG00000107521 MIM:604982; AllianceGenome:HGNC:5163
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
HPS; BLOC3S1
Summary
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in spleen (RPKM 13.6), bone marrow (RPKM 13.3) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See HPS1 in Genome Data Viewer
Location:
10q24.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (98413948..98446935, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (99296171..99326913, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (100175955..100206692, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378449 Neighboring gene Sharpr-MPRA regulatory region 15191 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:100127757-100128375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:100134557-100135058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:100135059-100135558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3867 Neighboring gene MPRA-validated peak1064 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100182997-100183558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100183559-100184120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2688 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 2 Neighboring gene NANOG hESC enhancer GRCh37_chr10:100213105-100213606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100215497-100216036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100216595-100217198 Neighboring gene microRNA 1287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2690 Neighboring gene microRNA 4685 Neighboring gene HPS1 antisense RNA 1 Neighboring gene heparanase 2 (inactive) Neighboring gene MPRA-validated peak1065 silencer Neighboring gene microRNA 6507 Neighboring gene ARL5A pseudogene 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. Suezawa T, et al. Respir Res, 2021 Nov 4. PMID 34736469, Free PMC Article
  2. A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. Ghafouri-Fard S, et al. Int J Mol Cell Med, 2016 Summer. PMID 27942505, Free PMC Article
  3. In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. Ikawa Y, et al. Mol Genet Metab, 2015 Jan. PMID 25468649, Free PMC Article
  4. An intractable case of Hermansky-Pudlak syndrome. Kanazu M, et al. Intern Med, 2014. PMID 25400188
  5. Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. Furuhashi K, et al. Intern Med, 2014. PMID 24583434

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
    Title: Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
  2. Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.
    Title: Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs.
  3. Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
    Title: Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.
  4. HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
    Title: HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
  5. HPS1 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.
    Title: NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
  6. 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.
  7. 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.
  8. a previously unreported missense mutation (G313S) at the 3' splice junction of exon 10 of Hermansky-Pudlak syndrome 1 protein resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA
    Title: Novel mutations in the HPS1 gene among Puerto Rican patients.
  9. Three different mutations in the HPS1 gene were found in the two families.
    Title: Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

Go to the top of the page Help

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 1
MedGen: C2931875 OMIM: 203300 GeneReviews: Hermansky-Pudlak Syndrome
Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC5277

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 
Process Evidence Code Pubs
involved_in intracellular transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lysosome organization TAS
Traceable Author Statement
more info
 PubMed 
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 response to stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception 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 
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in lysosome TAS
Traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
BLOC-3 complex member HPS1
Names
Hermansky-Pudlak syndrome 1 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_009646.1 RefSeqGene

    Range
    5013..35750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_562

mRNA and Protein(s)

  1. NM_000195.5 → NP_000186.2  BLOC-3 complex member HPS1 isoform a

    See identical proteins and their annotated locations for NP_000186.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 6, and 7 all encode the same isoform (a).
    Source sequence(s)
    AL139243, AL833734, BF447504, DA385131, U65676
    Consensus CDS
    CCDS7475.1
    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902
    UniProtKB/TrEMBL
    A0A8V8TN99
    Related
    ENSP00000355310.4, ENST00000361490.9

  2. NM_001311345.2 → NP_001298274.1  BLOC-3 complex member HPS1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initaites translation at a downstream start codon, compared to variant 1. It encodes isoform e, which is shorter at the N-terminus, compared to isoform a. Variants 5, 16, and 17 all encode the same isoform (e).
    Source sequence(s)
    AL139243, BC002514, BF447504, DA385131
    UniProtKB/TrEMBL
    Q658M9

  3. NM_001322476.2 → NP_001309405.1  BLOC-3 complex member HPS1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), along with variants 1 and 7, encodes isoform a.
    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS7475.1
    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902
    UniProtKB/TrEMBL
    A0A8V8TN99
    Related
    ENSP00000514159.1, ENST00000699142.1

  4. NM_001322477.2 → NP_001309406.1  BLOC-3 complex member HPS1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), along with variants 1 and 6, encodes isoform a.
    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS7475.1
    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902
    UniProtKB/TrEMBL
    A0A8V8TN99
    Related
    ENSP00000326649.6, ENST00000325103.10

  5. NM_001322478.2 → NP_001309407.1  BLOC-3 complex member HPS1 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) and variant 9 both encode isoform f.
    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS91316.1
    UniProtKB/TrEMBL
    A0A8V8TN90
    Related
    ENSP00000514153.1, ENST00000699136.1
    Conserved Domains (3) summary
    pfam19036
    Location:2 → 159
    Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
    pfam19037
    Location:204 → 372
    Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
    pfam19038
    Location:507 → 662
    Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

  6. NM_001322479.2 → NP_001309408.1  BLOC-3 complex member HPS1 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) and variant 8 both encode isoform f.
    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS91316.1
    UniProtKB/TrEMBL
    A0A8V8TN90
    Related
    ENSP00000514157.1, ENST00000699140.1
    Conserved Domains (3) summary
    pfam19036
    Location:2 → 159
    Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
    pfam19037
    Location:204 → 372
    Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
    pfam19038
    Location:507 → 662
    Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

  7. NM_001322480.2 → NP_001309409.1  BLOC-3 complex member HPS1 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) and variant 11 both encode isoform g.
    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS91314.1
    UniProtKB/TrEMBL
    A0A8V8TN94, A0A8V8TP59
    Related
    ENSP00000514146.1, ENST00000699125.1
    Conserved Domains (1) summary
    PRK12323
    Location:86 → 263
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  8. NM_001322481.2 → NP_001309410.1  BLOC-3 complex member HPS1 isoform g

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) and variant 10 both encode isoform g.
    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS91314.1
    UniProtKB/TrEMBL
    A0A8V8TN94, A0A8V8TP59
    Related
    ENSP00000514156.1, ENST00000699139.1

  9. NM_001322482.2 → NP_001309411.1  BLOC-3 complex member HPS1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS91313.1
    UniProtKB/TrEMBL
    A0A8V8TMQ9, A0A8V8TP59
    Related
    ENSP00000514137.1, ENST00000699112.1

  10. NM_001322483.2 → NP_001309412.1  BLOC-3 complex member HPS1 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) and variant 14 both encode isoform i.
    Source sequence(s)
    AL139243

  11. NM_001322484.2 → NP_001309413.1  BLOC-3 complex member HPS1 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) and variant 13 both encode isoform i.
    Source sequence(s)
    AL139243

  12. NM_001322485.2 → NP_001309414.1  BLOC-3 complex member HPS1 isoform j

    Status: REVIEWED

    Source sequence(s)
    AL139243

  13. NM_001322487.2 → NP_001309416.1  BLOC-3 complex member HPS1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), along with variants 5 and 16, encodes isoform e.
    Source sequence(s)
    AL139243
    UniProtKB/TrEMBL
    Q658M9
    Conserved Domains (1) summary
    cl24019
    Location:325 → 371
    CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

  14. NM_001322489.2 → NP_001309418.1  BLOC-3 complex member HPS1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), along with variants 5 and 16, encodes isoform e.
    Source sequence(s)
    AL139243
    UniProtKB/TrEMBL
    Q658M9
    Conserved Domains (1) summary
    cl24019
    Location:325 → 371
    CSN8_PSD8_EIF3K; CSN8/PSMD8/EIF3K family

  15. NM_001322490.2 → NP_001309419.1  BLOC-3 complex member HPS1 isoform k

    Status: REVIEWED

    Source sequence(s)
    AL139243
    UniProtKB/TrEMBL
    A0A0S2Z3Z8

  16. NM_001322491.2 → NP_001309420.1  BLOC-3 complex member HPS1 isoform l

    Status: REVIEWED

    Source sequence(s)
    AL139243
    Consensus CDS
    CCDS91315.1
    UniProtKB/TrEMBL
    A0A0S2Z3U1, B4DIX6, H0Y4K4

  17. NM_001322492.2 → NP_001309421.1  BLOC-3 complex member HPS1 isoform m

    Status: REVIEWED

    Source sequence(s)
    AL139243
    UniProtKB/TrEMBL
    A0A0S2Z3X2

  18. NM_182639.4 → NP_872577.1  BLOC-3 complex member HPS1 isoform c

    See identical proteins and their annotated locations for NP_872577.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate 3' exon structure compared to variant 1. It encodes isoform c, which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC000175, BI966698, DA385131, U96721
    Consensus CDS
    CCDS7476.1
    UniProtKB/TrEMBL
    A0A0S2Z3U9, B4DIX6
    Related
    ENSP00000343638.5, ENST00000338546.9

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    98413948..98446935 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425149.1 → XP_047281105.1  BLOC-3 complex member HPS1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TN94

  2. XM_047425147.1 → XP_047281103.1  BLOC-3 complex member HPS1 isoform X1

    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902

  3. XM_047425148.1 → XP_047281104.1  BLOC-3 complex member HPS1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TN94

  4. XM_047425146.1 → XP_047281102.1  BLOC-3 complex member HPS1 isoform X1

    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902

  5. XM_005269757.5 → XP_005269814.1  BLOC-3 complex member HPS1 isoform X1

    See identical proteins and their annotated locations for XP_005269814.1

    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902
    UniProtKB/TrEMBL
    A0A8V8TN99

  6. XM_047425150.1 → XP_047281106.1  BLOC-3 complex member HPS1 isoform X3

  7. XM_047425151.1 → XP_047281107.1  BLOC-3 complex member HPS1 isoform X4

    UniProtKB/TrEMBL
    A0A0S2Z3U1, H0Y4K4
    Related
    ENSP00000392462.2, ENST00000414009.2

  8. XM_017016173.2 → XP_016871662.1  BLOC-3 complex member HPS1 isoform X5

    UniProtKB/TrEMBL
    A0A0S2Z3X2

  9. XM_047425152.1 → XP_047281108.1  BLOC-3 complex member HPS1 isoform X4

    UniProtKB/TrEMBL
    A0A0S2Z3U1, H0Y4K4

RNA

  1. XR_007061961.1 RNA Sequence

  2. XR_001747098.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    99296171..99326913 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365707.1 → XP_054221682.1  BLOC-3 complex member HPS1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TN94

  2. XM_054365705.1 → XP_054221680.1  BLOC-3 complex member HPS1 isoform X1

    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902

  3. XM_054365706.1 → XP_054221681.1  BLOC-3 complex member HPS1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TN94

  4. XM_054365704.1 → XP_054221679.1  BLOC-3 complex member HPS1 isoform X1

    UniProtKB/Swiss-Prot
    A8MRT2, O15402, O15502, Q5TAA3, Q8WXE5, Q92902

  5. XM_054365708.1 → XP_054221683.1  BLOC-3 complex member HPS1 isoform X3

  6. XM_054365709.1 → XP_054221684.1  BLOC-3 complex member HPS1 isoform X4

    UniProtKB/TrEMBL
    A0A0S2Z3U1, H0Y4K4

  7. XM_054365711.1 → XP_054221686.1  BLOC-3 complex member HPS1 isoform X5

  8. XM_054365710.1 → XP_054221685.1  BLOC-3 complex member HPS1 isoform X4

    UniProtKB/TrEMBL
    A0A0S2Z3U1, H0Y4K4

RNA

  1. XR_008488201.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_182637.1: Suppressed sequence

    Description
    NM_182637.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_182638.1: Suppressed sequence

    Description
    NM_182638.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92902.2 GenPept UniProtKB/Swiss-Prot:Q92902

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous