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KIAA1671 KIAA1671 [ Homo sapiens (human) ]

Gene ID: 85379, updated on 5-May-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24952716..25197448)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25414302..25658633)
105.20220307 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. 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
  2. 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
  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 (67) 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)

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
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_2023_10

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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