FKBP1C FKBP prolyl isomerase family member 1C [Homo sapiens (human)] - Gene

Summary

Official Symbol: FKBP1Cprovided by HGNC
Official Full Name: FKBP prolyl isomerase family member 1Cprovided by HGNC
Primary source: HGNC:HGNC:21376
See related: Ensembl:ENSG00000198225 AllianceGenome:HGNC:21376
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 enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in chaperone-mediated protein folding and protein peptidyl-prolyl isomerization. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 6q12

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (63211469..63213027)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (64357359..64358911)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (63921374..63922932)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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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)

General gene information

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Markers

RH141052 (e-PCR)
- UniSTS:223052

RH68934 (e-PCR)
- UniSTS:91374

D20S1003 (e-PCR)
- UniSTS:154619

SHGC-32807 (e-PCR)
- UniSTS:167679

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptidyl-prolyl cis-trans isomerase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein peptidyl-prolyl isomerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ryanodine-sensitive calcium-release channel activity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sarcoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase FKBP1C

Names: FK506 binding protein 1C; FKBP prolyl isomerase 1C

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)

NM_001395980.1 → NP_001382909.1 peptidyl-prolyl cis-trans isomerase FKBP1C

Status: VALIDATED

Source sequence(s)

AL450346

Consensus CDS

CCDS93938.1

UniProtKB/Swiss-Prot

Q5VVH2

Related

ENSP00000359693.1, ENST00000370659.1