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Protein

Trichohyalin-like protein 1

Gene

TCHHL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

Names & Taxonomyi

Protein namesi
Recommended name:
Trichohyalin-like protein 1
Alternative name(s):
Basalin
Protein S100-A17
S100 calcium-binding protein A17
Gene namesi
Name:TCHHL1
Synonyms:S100A17, THHL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000182898.3.
HGNCiHGNC:31796. TCHHL1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi126637.
OpenTargetsiENSG00000182898.
PharmGKBiPA134982007.

Polymorphism and mutation databases

BioMutaiTCHHL1.
DMDMi74743107.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003415431 – 904Trichohyalin-like protein 1Add BLAST904

Proteomic databases

PaxDbiQ5QJ38.
PeptideAtlasiQ5QJ38.
PRIDEiQ5QJ38.

PTM databases

iPTMnetiQ5QJ38.
PhosphoSitePlusiQ5QJ38.

Expressioni

Gene expression databases

BgeeiENSG00000182898.
CleanExiHS_TCHHL1.

Organism-specific databases

HPAiHPA042579.
HPA063483.

Interactioni

Protein-protein interaction databases

BioGridi126005. 4 interactors.
STRINGi9606.ENSP00000357796.

Structurei

3D structure databases

ProteinModelPortaliQ5QJ38.
SMRiQ5QJ38.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini48 – 83EF-handAdd BLAST36

Sequence similaritiesi

Belongs to the S-100 family.Curated

Phylogenomic databases

eggNOGiENOG410IVGS. Eukaryota.
ENOG4111AD1. LUCA.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000154523.
HOVERGENiHBG108552.
InParanoidiQ5QJ38.
OMAiVTKTHDK.
OrthoDBiEOG091G01X9.
PhylomeDBiQ5QJ38.
TreeFamiTF337503.

Family and domain databases

CDDicd00213. S-100. 1 hit.
InterProiView protein in InterPro
IPR011992. EF-hand-dom_pair.
IPR034325. S-100_dom.
IPR013787. S100_Ca-bd_sub.
PfamiView protein in Pfam
PF01023. S_100. 1 hit.
SMARTiView protein in SMART
SM01394. S_100. 1 hit.
SUPFAMiSSF47473. SSF47473. 1 hit.

Sequencei

Sequence statusi: Complete.

Q5QJ38-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPQLLRNVLC VIETFHKYAS EDSNGATLTG RELKQLIQGE FGDFFQPCVL
60 70 80 90 100
HAVEKNSNLL NIDSNGIISF DEFVLAIFNL LNLCYLDIKS LLSSELRQVT
110 120 130 140 150
KPEKEKLDDV DVQATTGDGQ WTVGTSPTQE KRMLPSGMAS SSQLIPEESG
160 170 180 190 200
AVGNNRVDPW REAKTHNFPG EASEHNDPKN KHLEGDEQSQ EVAQDIQTTE
210 220 230 240 250
DNEGQLKTNK PMAGSKKTSS PTERKGQDKE ISQEGDEPAR EQSVSKIRDQ
260 270 280 290 300
FGEQEGNLAT QSSPPKEATQ RPCEDQEVRT EKEKHSNIQE PPLQREDEPS
310 320 330 340 350
SQHADLPEQA AARSPSQTQK STDSKDVCRM FDTQEPGKDA DQTPAKTKNL
360 370 380 390 400
GEPEDYGRTS ETQEKECETK DLPVQYGSRN GSETSDMRDE RKERRGPEAH
410 420 430 440 450
GTAGQKERDR KTRPLVLETQ TQDGKYQELQ GLSKSKDAEK GSETQYLSSE
460 470 480 490 500
GGDQTHPELE GTAVSGEEAE HTKEGTAEAF VNSKNAPAAE RTLGARERTQ
510 520 530 540 550
DLAPLEKQSV GENTRVTKTH DQPVEEEDGY QGEDPESPFT QSDEGSSETP
560 570 580 590 600
NSLASEEGNS SSETGELPVQ GDSQSQGDQH GESVQGGHNN NPDTQRQGTP
610 620 630 640 650
GEKNRALEAV VPAVRGEDVQ LTEDQEQPAR GEHKNQGPGT KGPGAAVEPN
660 670 680 690 700
GHPEAQESTA GDENRKSLEI EITGALDEDF TDQLSLMQLP GKGDSRNELK
710 720 730 740 750
VQGPSSKEEK GRATEAQNTL LESLDEDNSA SLKIQLETKE PVTSEEEDES
760 770 780 790 800
PQELAGEGGD QKSPAKKEHN SSVPWSSLEK QMQRDQEPCS VERGAVYSSP
810 820 830 840 850
LYQYLQEKIL QQTNVTQEEH QKQVQIAQAS GPELCSVSLT SEISDCSVFF
860 870 880 890 900
NYSQASQPYT RGLPLDESPA GAQETPAPQA LEDKQGHPQR ERLVLQREAS

TTKQ
Length:904
Mass (Da):99,275
Last modified:January 4, 2005 - v1
Checksum:i6ED5641594E029D7
GO

Sequence cautioni

Q5QJ38: The sequence CAH72897 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044083193A → G. Corresponds to variant dbSNP:rs16833835Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY456639 mRNA. Translation: AAS13485.1.
AL591893 Genomic DNA. Translation: CAH72897.1. Sequence problems.
CH471121 Genomic DNA. Translation: EAW53391.1.
BC137493 mRNA. Translation: AAI37494.1.
CCDSiCCDS30857.1.
RefSeqiNP_001008536.1. NM_001008536.1.
UniGeneiHs.546477.

Genome annotation databases

EnsembliENST00000368806; ENSP00000357796; ENSG00000182898.
GeneIDi126637.
KEGGihsa:126637.
UCSCiuc001ezo.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTCHL1_HUMAN
AccessioniPrimary (citable) accession number: Q5QJ38
Secondary accession number(s): B2RPK8, Q5VTJ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: January 4, 2005
Last modified: September 27, 2017
This is version 104 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families