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TCHHL1 trichohyalin like 1 [ Homo sapiens (human) ]

Gene ID: 126637, updated on 11-Jun-2021

Summary

Official Symbol
TCHHL1provided by HGNC
Official Full Name
trichohyalin like 1provided by HGNC
Primary source
HGNC:HGNC:31796
See related
Ensembl:ENSG00000182898
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
THHL1; S100A17
Summary
This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See TCHHL1 in Genome Data Viewer
Location:
1q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (152084141..152089064, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152056617..152061540, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene putative UPF0607 protein ENSP00000383783 Neighboring gene serine palmitoyltransferase long chain base subunit 1 pseudogene 4 Neighboring gene trichohyalin Neighboring gene pseudouridine 5'-phosphatase pseudogene 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Web-based, participant-driven studies yield novel genetic associations for common traits.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables transition metal ion binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
trichohyalin-like protein 1
Names
S100 calcium-binding protein A17
basalin
intermediate filament-associated protein

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_001008536.2NP_001008536.1  trichohyalin-like protein 1

    See identical proteins and their annotated locations for NP_001008536.1

    Status: REVIEWED

    Source sequence(s)
    AL591893, AY456639
    Consensus CDS
    CCDS30857.1
    UniProtKB/Swiss-Prot
    Q5QJ38
    Related
    ENSP00000357796.1, ENST00000368806.2
    Conserved Domains (3) summary
    cd00213
    Location:288
    S-100; S-100: S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains only S-100 EF-hand domains, other EF-hands have been modeled separately. S100 ...
    cl26761
    Location:170599
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
    cl27511
    Location:502757
    Na_Ca_ex; Sodium/calcium exchanger protein

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    152084141..152089064 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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