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KIAA1328 KIAA1328 [ Homo sapiens (human) ]

Gene ID: 57536, updated on 3-Apr-2024

Summary

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Official Symbol
KIAA1328provided by HGNC
Official Full Name
KIAA1328provided by HGNC
Primary source
HGNC:HGNC:29248
See related
Ensembl:ENSG00000150477 MIM:616480; AllianceGenome:HGNC:29248
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in ovary (RPKM 1.6), testis (RPKM 1.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
18q12.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (36829127..37232172)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (37022186..37425243)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (34409090..34812135)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene formin homology 2 domain containing 3 Neighboring gene uncharacterized LOC105372071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13241 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34254255-34254481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34287179-34287680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13242 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:34349653-34349798 Neighboring gene NANOG hESC enhancer GRCh37_chr18:34367445-34367994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:34408535-34409327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13243 Neighboring gene uncharacterized LOC105372069 Neighboring gene tubulin polyglutamylase complex subunit 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34527890-34528524 Neighboring gene uncharacterized LOC124904287 Neighboring gene VISTA enhancer hs590 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:34745369-34745869 Neighboring gene Sharpr-MPRA regulatory region 1146 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:34798477-34798995 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:34797958-34798476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34829500-34830000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34830001-34830501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9407 Neighboring gene uncharacterized LOC105372068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34885971-34886552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34902991-34903527 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:34921466-34922026 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:34942069-34943065 Neighboring gene CUGBP Elav-like family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34948255-34949075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34952714-34953502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:34953503-34954289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:34983317-34984180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35001359-35001962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35009620-35010464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35031250-35032144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:35044533-35045032 Neighboring gene small nucleolar RNA, H/ACA box 111

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. Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. Drew K, et al. Mol Syst Biol, 2017 Jun 8. PMID 28596423, Free PMC Article
  2. Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. Barone R, et al. Am J Med Genet A, 2017 Jun. PMID 28407444
  3. Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3. Patel CA, et al. BMC Cell Biol, 2005 Jan 18. PMID 15656913, Free PMC Article
  4. Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. Shaffer JR, et al. G3 (Bethesda), 2014 Feb 19. PMID 24347629, Free PMC Article
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
protein hinderin
Names
hinderin

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.

mRNA and Protein(s)

  1. NM_001322327.2 → NP_001309256.1  protein hinderin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC009854, AC015961, AC023577, BX648875
    UniProtKB/TrEMBL
    B4E2D7
    Conserved Domains (1) summary
    pfam15369
    Location:3 → 302
    KIAA1328; uncharacterized protein KIAA1328

  2. NM_001353918.2 → NP_001340847.1  protein hinderin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC009854, AC015961, AC016493, AC023577
    UniProtKB/TrEMBL
    A8K8C3
    Conserved Domains (1) summary
    pfam15369
    Location:93 → 405
    KIAA1328; Uncharacterized protein KIAA1328

  3. NM_001353919.2 → NP_001340848.1  protein hinderin isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC009854, AC015961, AC016493, AC023577
    UniProtKB/TrEMBL
    B4E2D7
    Conserved Domains (1) summary
    pfam15369
    Location:3 → 301
    KIAA1328; Uncharacterized protein KIAA1328

  4. NM_001353920.2 → NP_001340849.1  protein hinderin isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC009854, AC015961, AC016493, AC023577
    Conserved Domains (1) summary
    pfam15369
    Location:1 → 125
    KIAA1328; Uncharacterized protein KIAA1328

  5. NM_020776.3 → NP_065827.1  protein hinderin isoform 1

    See identical proteins and their annotated locations for NP_065827.1

    Status: VALIDATED

    Source sequence(s)
    AB037749, AC015961, AL832625, BC008670, BC037903, BC045585, BX648875
    Consensus CDS
    CCDS45855.1
    UniProtKB/Swiss-Prot
    Q05DL0, Q49AG6, Q86T90, Q9P2L8
    UniProtKB/TrEMBL
    A8K8C3
    Related
    ENSP00000280020.5, ENST00000280020.10
    Conserved Domains (1) summary
    pfam15369
    Location:93 → 410
    KIAA1328; uncharacterized protein KIAA1328

RNA

  1. NR_136303.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009854, AC015961, AC016493, AC023577

  2. NR_136304.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009854, AC015961, AC016493, AC023577

  3. NR_136305.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009854, AC015961, AC016493, AC023577

  4. NR_148565.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC009854, BC045585
    Related
    ENST00000592521.5

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    36829127..37232172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437678.1 → XP_047293634.1  protein hinderin isoform X2

  2. XM_047437680.1 → XP_047293636.1  protein hinderin isoform X4

  3. XM_047437677.1 → XP_047293633.1  protein hinderin isoform X2

  4. XM_047437679.1 → XP_047293635.1  protein hinderin isoform X3

  5. XM_005258318.6 → XP_005258375.1  protein hinderin isoform X4

    See identical proteins and their annotated locations for XP_005258375.1

    UniProtKB/TrEMBL
    A8K8C3
    Related
    ENSP00000466355.1, ENST00000587139.5
    Conserved Domains (1) summary
    pfam15369
    Location:48 → 365
    KIAA1328; uncharacterized protein KIAA1328

  6. XM_005258315.6 → XP_005258372.3  protein hinderin isoform X1

  7. XM_011526100.4 → XP_011524402.3  protein hinderin isoform X5

  8. XM_017025876.2 → XP_016881365.1  protein hinderin isoform X2

    UniProtKB/TrEMBL
    A8K8C3

  9. XM_005258317.4 → XP_005258374.1  protein hinderin isoform X3

    See identical proteins and their annotated locations for XP_005258374.1

    UniProtKB/TrEMBL
    A8K8C3
    Related
    ENSP00000465550.1, ENST00000591619.5
    Conserved Domains (1) summary
    pfam15369
    Location:89 → 406
    KIAA1328; uncharacterized protein KIAA1328

  10. XM_011526099.3 → XP_011524401.1  protein hinderin isoform X4

    See identical proteins and their annotated locations for XP_011524401.1

    UniProtKB/TrEMBL
    A8K8C3
    Conserved Domains (1) summary
    pfam15369
    Location:48 → 365
    KIAA1328; uncharacterized protein KIAA1328

  11. XM_017025881.2 → XP_016881370.1  protein hinderin isoform X6

    UniProtKB/TrEMBL
    B4E2D7
    Conserved Domains (1) summary
    pfam15369
    Location:1 → 233
    KIAA1328; uncharacterized protein KIAA1328

  12. XM_047437681.1 → XP_047293637.1  protein hinderin isoform X6

  13. XM_047437682.1 → XP_047293638.1  protein hinderin isoform X6

  14. XM_017025879.2 → XP_016881368.1  protein hinderin isoform X6

    UniProtKB/TrEMBL
    B4E2D7
    Conserved Domains (1) summary
    pfam15369
    Location:1 → 233
    KIAA1328; uncharacterized protein KIAA1328

  15. XM_017025880.2 → XP_016881369.1  protein hinderin isoform X6

    UniProtKB/TrEMBL
    B4E2D7
    Conserved Domains (1) summary
    pfam15369
    Location:1 → 233
    KIAA1328; uncharacterized protein KIAA1328

  16. XM_047437683.1 → XP_047293639.1  protein hinderin isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    37022186..37425243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318873.1 → XP_054174848.1  protein hinderin isoform X2

  2. XM_054318870.1 → XP_054174845.1  protein hinderin isoform X1

  3. XM_054318879.1 → XP_054174854.1  protein hinderin isoform X5

  4. XM_054318872.1 → XP_054174847.1  protein hinderin isoform X2

  5. XM_054318874.1 → XP_054174849.1  protein hinderin isoform X3

  6. XM_054318878.1 → XP_054174853.1  protein hinderin isoform X4

  7. XM_054318876.1 → XP_054174851.1  protein hinderin isoform X4

  8. XM_054318871.1 → XP_054174846.1  protein hinderin isoform X2

  9. XM_054318875.1 → XP_054174850.1  protein hinderin isoform X3

  10. XM_054318877.1 → XP_054174852.1  protein hinderin isoform X4

  11. XM_054318883.1 → XP_054174858.1  protein hinderin isoform X6

  12. XM_054318880.1 → XP_054174855.1  protein hinderin isoform X6

  13. XM_054318881.1 → XP_054174856.1  protein hinderin isoform X6

  14. XM_054318882.1 → XP_054174857.1  protein hinderin isoform X6

  15. XM_054318884.1 → XP_054174859.1  protein hinderin isoform X6

  16. XM_054318885.1 → XP_054174860.1  protein hinderin isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86T90.2 GenPept UniProtKB/Swiss-Prot:Q86T90

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