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    KIAA1671 KIAA1671 [ Homo sapiens (human) ]

    Gene ID: 85379, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KIAA1671provided by HGNC
    Official Full Name
    KIAA1671provided by HGNC
    Primary source
    HGNC:HGNC:29345
    See related
    Ensembl:ENSG00000197077 AllianceGenome:HGNC:29345
    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 thyroid (RPKM 12.1), esophagus (RPKM 8.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA1671 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24952716..25197448)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25414302..25658633)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (25348683..25593415)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene small G protein signaling modulator 1 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:25307870-25308029 Neighboring gene Sharpr-MPRA regulatory region 9438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25354355-25354854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25365545-25366128 Neighboring gene LHFPL tetraspan subfamily member 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25390751-25391348 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25398411-25398910 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:25421915-25423114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25457216-25458130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25462486-25463045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25465590-25466140 Neighboring gene Sharpr-MPRA regulatory region 10625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25494863-25495382 Neighboring gene KIAA1671 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25506614-25507476 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25507477-25508338 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63138 Neighboring gene Sharpr-MPRA regulatory region 2564 Neighboring gene Sharpr-MPRA regulatory region 1539 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63172 Neighboring gene STMN3 pseudogene 1 Neighboring gene crystallin beta B3 Neighboring gene crystallin beta B2

    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. Autoantibodies to Annexin XI-A and Other Autoantigens in the Diagnosis of Breast Cancer. Fernández-Madrid F, et al. Cancer Res, 2004 Aug 1. PMID 15289310
    2. BioID2 screening identifies KIAA1671 as an EPS8 proximal factor that marks sites of microvillus growth. Gaeta IM, et al. Mol Biol Cell, 2023 Apr 1. PMID 36790915, Free PMC Article
    3. Proteomic Analysis Reveals a Novel Mutator S (MutS) Partner Involved in Mismatch Repair Pathway. Chen Z, et al. Mol Cell Proteomics, 2016 Apr. PMID 27037360, Free PMC Article
    4. Novel susceptibility genes associated with diabetic cataract in a Taiwanese population. Lin HJ, et al. Ophthalmic Genet, 2013 Mar-Jun. PMID 23137000
    5. SCF (Fbxl17) ubiquitylation of Sufu regulates Hedgehog signaling and medulloblastoma development. Raducu M, et al. EMBO J, 2016 Jul 1. PMID 27234298, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIAA1671 gene expression is decreased in both classic and follicular variants of papillary thyroid carcinoma.
      Title: Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.
    Submit: New GeneRIF Correction

    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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    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
    uncharacterized protein KIAA1671
    Names
    CTA-221G9.5

    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_001145206.2 → NP_001138678.1  uncharacterized protein KIAA1671 isoform 2

      See identical proteins and their annotated locations for NP_001138678.1

      Status: VALIDATED

      Source sequence(s)
      AL022323, AL050312, Z99916
      Consensus CDS
      CCDS46676.1
      UniProtKB/Swiss-Prot
      B0QYF2, B7ZW08, Q5THZ5, Q9BY89
      Related
      ENSP00000351207.3, ENST00000358431.8
      Conserved Domains (2) summary
      PHA03247
      Location:36 → 271
      PHA03247; large tegument protein UL36; Provisional
      pfam15327
      Location:1630 → 1797
      Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

    2. NM_001386930.1 → NP_001373859.1  uncharacterized protein KIAA1671 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL022323, AL050312, Z99916
      Conserved Domains (2) summary
      PHA03247
      Location:36 → 271
      PHA03247; large tegument protein UL36; Provisional
      pfam15327
      Location:1630 → 1781
      Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

    3. NM_001386932.1 → NP_001373861.1  uncharacterized protein KIAA1671 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL022323, AL050312, Z99916
      Consensus CDS
      CCDS46676.1
      UniProtKB/Swiss-Prot
      B0QYF2, B7ZW08, Q5THZ5, Q9BY89
      Conserved Domains (2) summary
      PHA03247
      Location:36 → 271
      PHA03247; large tegument protein UL36; Provisional
      pfam15327
      Location:1630 → 1797
      Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

    4. NM_001386933.1 → NP_001373862.1  uncharacterized protein KIAA1671 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL022323, AL050312, Z99916
      Consensus CDS
      CCDS46676.1
      UniProtKB/Swiss-Prot
      B0QYF2, B7ZW08, Q5THZ5, Q9BY89
      Related
      ENSP00000385152.3, ENST00000406486.8
      Conserved Domains (2) summary
      PHA03247
      Location:36 → 271
      PHA03247; large tegument protein UL36; Provisional
      pfam15327
      Location:1630 → 1797
      Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

    5. NM_001386934.1 → NP_001373863.1  uncharacterized protein KIAA1671 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL022323, Z99916
      Consensus CDS
      CCDS93136.1
      UniProtKB/TrEMBL
      A0A1B0GVJ7
      Related
      ENSP00000490544.1, ENST00000637069.1
      Conserved Domains (1) summary
      pfam15327
      Location:215 → 382
      Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

    6. NM_001386935.1 → NP_001373864.1  uncharacterized protein KIAA1671 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL022323, Z99916
      Consensus CDS
      CCDS93135.1
      Related
      ENSP00000385377.1, ENST00000401395.1
      Conserved Domains (1) summary
      pfam15327
      Location:137 → 304
      Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24952716..25197448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441556.1 → XP_047297512.1  uncharacterized protein KIAA1671 isoform X1

      UniProtKB/Swiss-Prot
      B0QYF2, B7ZW08, Q5THZ5, Q9BY89

    2. XM_006724346.3 → XP_006724409.1  uncharacterized protein KIAA1671 isoform X1

      See identical proteins and their annotated locations for XP_006724409.1

      UniProtKB/Swiss-Prot
      B0QYF2, B7ZW08, Q5THZ5, Q9BY89
      Conserved Domains (2) summary
      PHA03247
      Location:36 → 271
      PHA03247; large tegument protein UL36; Provisional
      pfam15327
      Location:1630 → 1797
      Tankyrase_bdg_C; Tankyrase binding protein C terminal domain

    3. XM_047441557.1 → XP_047297513.1  uncharacterized protein KIAA1671 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25414302..25658633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326068.1 → XP_054182043.1  uncharacterized protein KIAA1671 isoform X1

      UniProtKB/Swiss-Prot
      B0QYF2, B7ZW08, Q5THZ5, Q9BY89

    2. XM_054326067.1 → XP_054182042.1  uncharacterized protein KIAA1671 isoform X1

      UniProtKB/Swiss-Prot
      B0QYF2, B7ZW08, Q5THZ5, Q9BY89

    3. XM_054326069.1 → XP_054182044.1  uncharacterized protein KIAA1671 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BY89.2 GenPept UniProtKB/Swiss-Prot:Q9BY89

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