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FHDC1 FH2 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 85462, updated on 11-Jun-2021

Summary

Official Symbol
FHDC1provided by HGNC
Official Full Name
FH2 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:29363
See related
Ensembl:ENSG00000137460
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
INF1
Expression
Ubiquitous expression in thyroid (RPKM 7.7), prostate (RPKM 5.1) and 24 other tissues See more
Orthologs
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Genomic context

See FHDC1 in Genome Data Viewer
Location:
4q31.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (152935445..152979671)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (153857475..153900823)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor interacting protein 1 Neighboring gene NSA2 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 8192 Neighboring gene uncharacterized LOC729870 Neighboring gene family with sequence similarity 192, member A pseudogene Neighboring gene tripartite motif containing 2 Neighboring gene uncharacterized LOC105377496 Neighboring gene RNA, U6 small nuclear 1196, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1727

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in microtubule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
FH2 domain-containing protein 1
Names
inverted formin-1

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_001371116.1NP_001358045.1  FH2 domain-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AC093599
    Related
    ENSP00000427567.1, ENST00000511601.6
    Conserved Domains (2) summary
    PHA03307
    Location:7301136
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:93457
    FH2; Formin Homology 2 Domain
  2. NM_033393.3NP_203751.2  FH2 domain-containing protein 1

    See identical proteins and their annotated locations for NP_203751.2

    Status: VALIDATED

    Source sequence(s)
    AC093599
    Consensus CDS
    CCDS34081.1
    UniProtKB/Swiss-Prot
    Q9C0D6
    Conserved Domains (2) summary
    PHA03307
    Location:7301136
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:93457
    FH2; Formin Homology 2 Domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    152935445..152979671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532389.1XP_011530691.1  FH2 domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530691.1

    UniProtKB/Swiss-Prot
    Q9C0D6
    Conserved Domains (2) summary
    PHA03307
    Location:7301136
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam02181
    Location:93457
    FH2; Formin Homology 2 Domain
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