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CFAP97 cilia and flagella associated protein 97 [ Homo sapiens (human) ]

Gene ID: 57587, updated on 17-Sep-2024

Summary

Official Symbol
CFAP97provided by HGNC
Official Full Name
cilia and flagella associated protein 97provided by HGNC
Primary source
HGNC:HGNC:29276
See related
Ensembl:ENSG00000164323 MIM:616047; AllianceGenome:HGNC:29276
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
Also known as
hmw; KIAA1430
Expression
Ubiquitous expression in testis (RPKM 18.7), thyroid (RPKM 14.3) and 25 other tissues See more
Orthologs
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Genomic context

See CFAP97 in Genome Data Viewer
Location:
4q35.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185159665..185210248, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188503345..188553963, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186080819..186125154, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186030634-186031272 Neighboring gene Sharpr-MPRA regulatory region 4736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186049861-186050404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15847 Neighboring gene solute carrier family 25 member 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:186125066-186125237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22250 Neighboring gene sorting nexin 25 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186160877-186161869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186161870-186162861 Neighboring gene NANOG hESC enhancer GRCh37_chr4:186187032-186187533 Neighboring gene Sharpr-MPRA regulatory region 940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186223282-186223782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22253 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186227325-186227825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22256 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186239748-186240413 Neighboring gene uncharacterized LOC124900827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22258 Neighboring gene LRP2 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15855 Neighboring gene ankyrin repeat domain 37

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ21225, KIAA1430, DKFZp434F1728

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 97

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_001292033.2NP_001278962.1  cilia- and flagella-associated protein 97 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate 3' terminal exon, compared to variant 1, resulting in a novel 3' coding region and 3' UTR. It encodes isoform 2 which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC093592, AK091993, BC030535, BM729997
    Consensus CDS
    CCDS75216.1
    UniProtKB/Swiss-Prot
    Q9P2B7
    Related
    ENSP00000423312.1, ENST00000514798.1
    Conserved Domains (1) summary
    pfam13879
    Location:345442
    KIAA1430; KIAA1430 homologue
  2. NM_020827.3NP_065878.1  cilia- and flagella-associated protein 97 isoform 1

    See identical proteins and their annotated locations for NP_065878.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC093592, AK091993, AL133615, BC030535
    Consensus CDS
    CCDS47168.1
    UniProtKB/Swiss-Prot
    B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
    Related
    ENSP00000409964.2, ENST00000458385.7
    Conserved Domains (1) summary
    pfam13879
    Location:346447
    KIAA1430; KIAA1430 homolog

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    185159665..185210248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416016.1XP_047271972.1  cilia- and flagella-associated protein 97 isoform X1

    UniProtKB/Swiss-Prot
    B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
  2. XM_047416015.1XP_047271971.1  cilia- and flagella-associated protein 97 isoform X1

    UniProtKB/Swiss-Prot
    B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
  3. XM_017008483.3XP_016863972.1  cilia- and flagella-associated protein 97 isoform X1

    UniProtKB/Swiss-Prot
    B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
    Conserved Domains (1) summary
    pfam13879
    Location:346447
    KIAA1430; KIAA1430 homolog
  4. XM_017008486.3XP_016863975.1  cilia- and flagella-associated protein 97 isoform X1

    UniProtKB/Swiss-Prot
    B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
    Conserved Domains (1) summary
    pfam13879
    Location:346447
    KIAA1430; KIAA1430 homolog
  5. XM_017008484.3XP_016863973.1  cilia- and flagella-associated protein 97 isoform X1

    UniProtKB/Swiss-Prot
    B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
    Conserved Domains (1) summary
    pfam13879
    Location:346447
    KIAA1430; KIAA1430 homolog

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    188503345..188553963 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350602.1XP_054206577.1  cilia- and flagella-associated protein 97 isoform X1

  2. XM_054350599.1XP_054206574.1  cilia- and flagella-associated protein 97 isoform X1

  3. XM_054350598.1XP_054206573.1  cilia- and flagella-associated protein 97 isoform X1

  4. XM_054350600.1XP_054206575.1  cilia- and flagella-associated protein 97 isoform X1

  5. XM_054350601.1XP_054206576.1  cilia- and flagella-associated protein 97 isoform X1