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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

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

HGNCiHGNC:31796. TCHHL1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134982007.

Polymorphism and mutation databases

BioMutaiTCHHL1.
DMDMi74743107.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 904904Trichohyalin-like protein 1PRO_0000341543Add
BLAST

Proteomic databases

PaxDbiQ5QJ38.
PeptideAtlasiQ5QJ38.
PRIDEiQ5QJ38.

PTM databases

iPTMnetiQ5QJ38.
PhosphoSiteiQ5QJ38.

Expressioni

Gene expression databases

CleanExiHS_TCHHL1.

Organism-specific databases

HPAiHPA042579.

Interactioni

Protein-protein interaction databases

BioGridi126005. 1 interaction.
STRINGi9606.ENSP00000357796.

Structurei

3D structure databases

ProteinModelPortaliQ5QJ38.
SMRiQ5QJ38. Positions 10-77.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini48 – 8336EF-handAdd
BLAST

Sequence similaritiesi

Belongs to the S-100 family.Curated
Contains 1 EF-hand domain.Curated

Phylogenomic databases

eggNOGiENOG410IVGS. Eukaryota.
ENOG4111AD1. LUCA.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000154523.
HOVERGENiHBG108552.
InParanoidiQ5QJ38.
OMAiTFHKYAR.
OrthoDBiEOG7QC7VH.
PhylomeDBiQ5QJ38.
TreeFamiTF337503.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR013787. S100_Ca-bd_sub.
[Graphical view]
PfamiPF01023. S_100. 1 hit.
[Graphical view]
SMARTiSM01394. S_100. 1 hit.
[Graphical view]
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

The sequence CAH72897.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti193 – 1931A → G.
Corresponds to variant rs16833835 [ dbSNP | Ensembl ].
VAR_044083

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ5QJ38.
SMRiQ5QJ38. Positions 10-77.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126005. 1 interaction.
STRINGi9606.ENSP00000357796.

PTM databases

iPTMnetiQ5QJ38.
PhosphoSiteiQ5QJ38.

Polymorphism and mutation databases

BioMutaiTCHHL1.
DMDMi74743107.

Proteomic databases

PaxDbiQ5QJ38.
PeptideAtlasiQ5QJ38.
PRIDEiQ5QJ38.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi126637.
GeneCardsiTCHHL1.
HGNCiHGNC:31796. TCHHL1.
HPAiHPA042579.
neXtProtiNX_Q5QJ38.
PharmGKBiPA134982007.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVGS. Eukaryota.
ENOG4111AD1. LUCA.
GeneTreeiENSGT00530000063634.
HOGENOMiHOG000154523.
HOVERGENiHBG108552.
InParanoidiQ5QJ38.
OMAiTFHKYAR.
OrthoDBiEOG7QC7VH.
PhylomeDBiQ5QJ38.
TreeFamiTF337503.

Miscellaneous databases

GenomeRNAii126637.
PROiQ5QJ38.

Gene expression databases

CleanExiHS_TCHHL1.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR013787. S100_Ca-bd_sub.
[Graphical view]
PfamiPF01023. S_100. 1 hit.
[Graphical view]
SMARTiSM01394. S_100. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human intermediate filament-associated protein family."
    Wu Z., Schroeder J.M.
    Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Skin.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].

Entry informationi

Entry nameiTCHL1_HUMAN
AccessioniPrimary (citable) accession number: Q5QJ38
Secondary accession number(s): B2RPK8, Q5VTJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: January 4, 2005
Last modified: July 6, 2016
This is version 95 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.