Q6PGP7 (TTC37_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Tetratricopeptide repeat protein 37
Short name=TPR repeat protein 37
Short name=Thespin

Gene names

Name:	TTC37
Synonyms:	KIAA0372

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1564 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Widely expressed with the highest levels observed in vascular tissues, lymph node, pituitary, lung and intestine. Not expressed in the liver. Ref.4
Involvement in disease	Note=Defects in TTC37 are associated with Trico-Hepato-Enteric syndrome (THE). THE syndrome is a rare and severe autosonmal recessive condition that associates intractable diarrhea with facial dysmorphism, intrauterine growth retardation immunodeficiency with low serum concentrations of immunoglobulins and hair abnormalities characterized by woolly hair. Ref.4
Sequence similarities	Contains 20 TPR repeats.
Sequence caution	The sequence BAA20827.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Repeat TPR repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1564	1564	Tetratricopeptide repeat protein 37		PRO_0000251722
Regions
	Repeat	6 – 39	34	TPR 1
	Repeat	40 – 73	34	TPR 2
	Repeat	272 – 305	34	TPR 3
	Repeat	307 – 339	33	TPR 4
	Repeat	386 – 419	34	TPR 5
	Repeat	420 – 453	34	TPR 6
	Repeat	455 – 492	38	TPR 7
	Repeat	493 – 527	35	TPR 8
	Repeat	564 – 597	34	TPR 9
	Repeat	598 – 631	34	TPR 10
	Repeat	633 – 665	33	TPR 11
	Repeat	679 – 713	35	TPR 12
	Repeat	790 – 824	35	TPR 13
	Repeat	826 – 860	35	TPR 14
	Repeat	861 – 894	34	TPR 15
	Repeat	980 – 1013	34	TPR 16
	Repeat	1020 – 1054	35	TPR 17
	Repeat	1056 – 1084	29	TPR 18
	Repeat	1326 – 1359	34	TPR 19
	Repeat	1400 – 1433	34	TPR 20
Natural variations
	Natural variant	437	1	L → V. Corresponds to variant rs17084873 [ dbSNP | Ensembl ].		VAR_027705
	Natural variant	860 – 878	19	Missing Found in a patient with THE syndrome.		VAR_065297
	Natural variant	1077	1	A → D Found in a patient with THE syndrome. Ref.4		VAR_065298
	Natural variant	1270	1	P → A Found in a patient with THE syndrome. Ref.4		VAR_065299
	Natural variant	1296	1	R → S. Corresponds to variant rs2303650 [ dbSNP | Ensembl ].		VAR_027706
	Natural variant	1485	1	L → R Found in a patient with THE syndrome. Ref.4		VAR_065300

Sequences

	Sequence		Length	Mass (Da)
	Q6PGP7 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 12D6B45B4A6F367A	FASTA	1,564	175,486
	10 20 30 40 50 60 MSSKEVKTAL KSARDAIRNK EYKEALKHCK TVLKQEKNNY NAWVFIGVAA AELEQPDQAQ 70 80 90 100 110 120 SAYKKAAELE PDQLLAWQGL ANLYEKYNHI NAKDDLPGVY QKLLDLYESV DKQKWCDVCK 130 140 150 160 170 180 KLVDLYYQEK KHLEVARTWH KLIKTRQEQG AENEELHQLW RKLTQFLAES TEDQNNETQQ 190 200 210 220 230 240 LLFTAFENAL GLSDKIPSED HQVLYRHFIQ SLSKFPHESA RLKKACEGMI NIYPTVQYPL 250 260 270 280 290 300 EVLCLHLIES GNLTDEGQQY CCRLVEMDSK SGPGLIGLGI KALQDKKYED AVRNLTEGLK 310 320 330 340 350 360 ESPVCTSGWY HLAEAQVKMH RPKEAVLSCS QALKIVDNLG ASGNSLYQRN LCLHLKAEAL 370 380 390 400 410 420 IKLSDYDSSE EAIRTLDQIS DADNIPGLLV LKSLAYRNKG SFDEAAKIME DLLSSYPDLA 430 440 450 460 470 480 EVHALEALIH FTKKDYLQAE KCFQRALEKD TEVAEYHYQL GLTYWFMGEE TRKDKTKALT 490 500 510 520 530 540 HFLKAARLDT YMGKVFCYLG HYYRDVVGDK NRARGCYRKA FELDDTDAES GAAAVDLSVE 550 560 570 580 590 600 LEDMEMALAI LTTVTQKASA GTAKWAWLRR GLYYLKAGQH SQAVADLQAA LRADPKDFNC 610 620 630 640 650 660 WESLGEAYLS RGGYTTALKS FTKASELNPE SIYSVFKVAA IQQILGKYKE AVAQYQMIIK 670 680 690 700 710 720 KKEDYVPALK GLGECHLMMA KAALVDYLDG KAVDYIEKAL EYFTCALQHR ADVSCLWKLA 730 740 750 760 770 780 GDACTCLYAV APSKVNVHVL GVLLGQKEGK QVLKKNELLH LGGRCYGRAL KLMSTSNTWC 790 800 810 820 830 840 DLGINYYRQA QHLAETGSNM NDLKELLEKS LHCLKKAVRL DSNNHLYWNA LGVVACYSGI 850 860 870 880 890 900 GNYALAQHCF IKSIQSEQIN AVAWTNLGVL YLTNENIEQA HEAFKMAQSL DPSYLMCWIG 910 920 930 940 950 960 QALIAEAVGS YDTMDLFRHT TELNMHTEGA LGYAYWVCTT LQDKSNRETE LYQYNILQMN 970 980 990 1000 1010 1020 AIPAAQVILN KYVERIQNYA PAFTMLGYLN EHLQLKKEAA NAYQRAILLL QTAEDQDTYN 1030 1040 1050 1060 1070 1080 VAIRNYGRLL CSTGEYDKAI QAFKSTPLEV LEDIIGFALA LFMKGLYKES SKAYERALSI 1090 1100 1110 1120 1130 1140 VESEQDKAHI LTALAITEYK QGKTDVAKTL LFKCSILKEP TTESLQALCA LGLAMQDATL 1150 1160 1170 1180 1190 1200 SKAALNELLK HIKHKDSNYQ RCLLTSAIYA LQGRSVAVQK QISKAVHSNP GDPALWSLLS 1210 1220 1230 1240 1250 1260 RVVAQYAQRN AKGGVVAGNV AHILDSNHGK KALLYTAVNQ LAMGSSSAED EKNTALKTIQ 1270 1280 1290 1300 1310 1320 KAALLSPGDP AIWAGLMAAC HADDKLALVN NTQPKRIDLY LALLSAVSAS IKDEKFFENY 1330 1340 1350 1360 1370 1380 NQSLEKWSLS QAVTGLIDTG RISEAETLCT KNLKSNPDQP AVILLLRQVQ CKPLLESQKP 1390 1400 1410 1420 1430 1440 LPDAVLEELQ KTVMSNSTSV PAWQWLAHVY QSQGMMRAAE MCYRKSLQLA SQRGSWSGKL 1450 1460 1470 1480 1490 1500 SSLLRLALLA LKVCMANISN DHWPSLVQEA TTEALKLCFC PLAVLLQALL QFKRKMGARE 1510 1520 1530 1540 1550 1560 TRRLLERVVY QPGYPKSIAS TARWYLLRHL YAKDDYELID VLVNNAKTHG DTRALELNQR LSSQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[2]	Ohara O., Nagase T., Kikuno R., Nomura N. Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung carcinoma and Melanoma.
[4]	"Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome." Fabre A., Martinez-Vinson C., Roquelaure B., Missirian C., Andre N., Breton A., Lachaux A., Odul E., Colomb V., Lemale J., Cezard J.P., Goulet O., Sarles J., Levy N., Badens C. Hum. Mutat. 32:277-281(2011) [PubMed: 21120949] [Abstract] Cited for: TISSUE SPECIFICITY, VARIANTS 860-ASN--GLU-878 DEL; ASP-1077; ALA-1270 AND ARG-1485, ASSOCIATION WITH THE SYNDROME.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB002370 mRNA. Translation: BAA20827.2. Different initiation. BC015163 mRNA. Translation: AAH15163.1. BC056893 mRNA. Translation: AAH56893.1.
IPI	IPI00005634.
RefSeq	NP_055454.1. NM_014639.3.
UniGene	Hs.482868.
3D structure databases
HSSP	HSSP built from PDB template 2FBN based on UniProtKB Q8I4V8.
ProteinModelPortal	Q6PGP7.
SMR	Q6PGP7. Positions 9-76, 275-333, 398-452, 494-721, 808-910, 978-1117, 1340-1435.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1194694.
STRING	Q6PGP7.
PTM databases
PhosphoSite	Q6PGP7.
Polymorphism databases
DMDM	74758339.
Proteomic databases
PeptideAtlas	Q6PGP7.
PRIDE	Q6PGP7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358746; ENSP00000351596; ENSG00000198677.
GeneID	9652.
KEGG	hsa:9652.
UCSC	uc003klb.1. human.
Organism-specific databases
CTD	9652.
GeneCards	GC05M094826.
H-InvDB	HIX0005042.
HGNC	HGNC:23639. TTC37.
HPA	HPA037905.
neXtProt	NX_Q6PGP7.
Orphanet	84064. Syndromic diarrhea.
PharmGKB	PA162407226.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16281.
GeneTree	ENSGT00390000016407.
HOGENOM	HBG446475.
HOVERGEN	HBG090717.
InParanoid	Q6PGP7.
OMA	CYRKAFE.
OrthoDB	EOG4QNMVB.
PhylomeDB	Q6PGP7.
Gene expression databases
ArrayExpress	Q6PGP7.
Bgee	Q6PGP7.
CleanEx	HS_TTC37.
Genevestigator	Q6PGP7.
GermOnline	ENSG00000198677. Homo sapiens.
Family and domain databases
InterPro	IPR006597. Sel1-like. IPR001440. TPR-1. IPR013026. TPR-contain. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view]
Gene3D	G3DSA:1.25.40.10. TPR-like_helical. 7 hits.
KO	K12600.
Pfam	PF00515. TPR_1. 2 hits. [Graphical view]
SMART	SM00671. SEL1. 2 hits. SM00028. TPR. 14 hits. [Graphical view]
PROSITE	PS50005. TPR. 12 hits. PS50293. TPR_REGION. 5 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	36233.

Entry information

Entry name

TTC37_HUMAN

Accession

Primary (citable) accession number: Q6PGP7
Secondary accession number(s): O15077, Q6PJI3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2006
Last sequence update:	July 5, 2004
Last modified:	January 25, 2012
This is version 75 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.