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    KIAA1210 KIAA1210 [ Homo sapiens (human) ]

    Gene ID: 57481, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KIAA1210provided by HGNC
    Official Full Name
    KIAA1210provided by HGNC
    Primary source
    HGNC:HGNC:29218
    See related
    Ensembl:ENSG00000250423 MIM:300995; AllianceGenome:HGNC:29218
    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
    Summary
    Predicted to be located in acrosomal vesicle and basal ectoplasmic specialization. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 25.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA1210 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119078635..119151130, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117456370..117528854, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118212598..118284542, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118125886-118127085 Neighboring gene LON peptidase N-terminal domain and ring finger 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20952 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:118174593-118175792 Neighboring gene cancer/testis antigen family 47 member C1 Neighboring gene ARL5A pseudogene 1 Neighboring gene NUDT19 pseudogene 1

    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. Novel localizations and interactions of intercellular bridge proteins revealed by proteomic profiling†. Iwamori T, et al. Biol Reprod, 2020 Apr 24. PMID 31995159
    2. Identification of KIAA1210 as a novel X-chromosome-linked protein that localizes to the acrosome and associates with the ectoplasmic specialization in testes. Iwamori T, et al. Biol Reprod, 2017 Feb 1. PMID 28203736, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
    4. Large-scale phosphomimetic screening identifies phospho-modulated motif-based protein interactions. Kliche J, et al. Mol Syst Biol, 2023 Jul 11. PMID 37219487, Free PMC Article
    5. Discovery of a Human Testis-specific Protein Complex TEX101-DPEP3 and Selection of Its Disrupting Antibodies. Schiza C, et al. Mol Cell Proteomics, 2018 Dec. PMID 30097533, Free PMC Article

    See all (8) 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with basal ectoplasmic specialization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    acrosomal protein KIAA1210

    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_001394962.1 → NP_001381891.1  acrosomal protein KIAA1210 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL590376, AL772284
      Consensus CDS
      CCDS94659.1
      UniProtKB/TrEMBL
      A0A8I5KWH9
      Related
      ENSP00000510348.1, ENST00000691062.1
      Conserved Domains (1) summary
      pfam15262
      Location:177 → 278
      DUF4592; Domain of unknown function (DUF4592)

    2. NM_020721.1 → NP_065772.1  acrosomal protein KIAA1210 isoform 2

      See identical proteins and their annotated locations for NP_065772.1

      Status: VALIDATED

      Source sequence(s)
      AL441887, AL590376, AL772284, BX099098, DT932686, DV080213
      Consensus CDS
      CCDS48156.1
      UniProtKB/Swiss-Prot
      B7ZCI8, Q5JPN4, Q9ULL0
      Related
      ENSP00000384670.2, ENST00000402510.2
      Conserved Domains (1) summary
      pfam15262
      Location:317 → 418
      DUF4592; Domain of unknown function (DUF4592)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      119078635..119151130 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029689.3 → XP_016885178.1  acrosomal protein KIAA1210 isoform X2

    2. XM_017029688.3 → XP_016885177.1  acrosomal protein KIAA1210 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      117456370..117528854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327443.1 → XP_054183418.1  acrosomal protein KIAA1210 isoform X2

    2. XM_054327442.1 → XP_054183417.1  acrosomal protein KIAA1210 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULL0.3 GenPept UniProtKB/Swiss-Prot:Q9ULL0

    Gene LinkOut

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

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