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KIAA1328 KIAA1328 [ Homo sapiens (human) ]

Gene ID: 57536, updated on 25-Jan-2022

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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See KIAA1328 in Genome Data Viewer
Location:
18q12.2
Exon count:
24
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (36828817..37232172)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (34409090..34812135)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene WDR45-like pseudogene Neighboring gene formin homology 2 domain containing 3 Neighboring gene uncharacterized LOC105372071 Neighboring gene tubulin polyglutamylase complex subunit 2 Neighboring gene uncharacterized LOC105372069 Neighboring gene VISTA enhancer hs590 Neighboring gene uncharacterized LOC105372068 Neighboring gene CUGBP Elav-like family member 4 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. 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
  2. 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
  3. 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
  4. 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
  5. A human MAP kinase interactome. Bandyopadhyay S, et al. Nat Methods, 2010 Oct. PMID 20936779, Free PMC Article

See all (17) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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
    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
    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
    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
    Q86T90
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    36828817..37232172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258315.5 → XP_005258372.2  protein hinderin isoform X1

    Conserved Domains (1) summary
    pfam15369
    Location:175 → 491
    KIAA1328; Uncharacterized protein KIAA1328

  2. XM_011526100.3 → XP_011524402.2  protein hinderin isoform X5

    Conserved Domains (1) summary
    pfam15369
    Location:175 → 491
    KIAA1328; Uncharacterized protein KIAA1328

  3. XM_024451226.1 → XP_024306994.1  protein hinderin isoform X7

    Conserved Domains (1) summary
    pfam15369
    Location:1 → 125
    KIAA1328; Uncharacterized protein KIAA1328

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

    See identical proteins and their annotated locations for XP_005258375.1

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

  5. XM_017025877.1 → XP_016881366.1  protein hinderin isoform X4

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

  6. XM_005258317.3 → XP_005258374.1  protein hinderin isoform X3

    See identical proteins and their annotated locations for XP_005258374.1

    UniProtKB/Swiss-Prot
    Q86T90
    Related
    ENSP00000465550.1, ENST00000591619.5
    Conserved Domains (1) summary
    pfam15369
    Location:89 → 406
    KIAA1328; uncharacterized protein KIAA1328

  7. XM_017025876.1 → XP_016881365.1  protein hinderin isoform X2

  8. XM_011526099.2 → XP_011524401.1  protein hinderin isoform X4

    See identical proteins and their annotated locations for XP_011524401.1

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

  9. XM_017025881.1 → XP_016881370.1  protein hinderin isoform X6

    Conserved Domains (1) summary
    pfam15369
    Location:1 → 233
    KIAA1328; uncharacterized protein KIAA1328

  10. XM_017025879.1 → XP_016881368.1  protein hinderin isoform X6

    Conserved Domains (1) summary
    pfam15369
    Location:1 → 233
    KIAA1328; uncharacterized protein KIAA1328

  11. XM_017025880.1 → XP_016881369.1  protein hinderin isoform X6

    Conserved Domains (1) summary
    pfam15369
    Location:1 → 233
    KIAA1328; uncharacterized protein KIAA1328
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86T90.2 GenPept UniProtKB/Swiss-Prot:Q86T90

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