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TCHHL1 trichohyalin like 1 [ Homo sapiens (human) ]

Gene ID: 126637, updated on 10-Dec-2024

Summary

Official Symbol
TCHHL1provided by HGNC
Official Full Name
trichohyalin like 1provided by HGNC
Primary source
HGNC:HGNC:31796
See related
Ensembl:ENSG00000182898 AllianceGenome:HGNC:31796
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152084141..152089064, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151207707..151212630, complement)
RS_2024_09 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

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
    B2RPK8, Q5QJ38, Q5VTJ9
    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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    151207707..151212630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)