Q7Z5M5 (TMC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane channel-like protein 3

Gene names

Name:

TMC3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1100 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Probable ion channel By similarity.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the TMC family.
Sequence caution	The sequence AAP78778.1 differs from that shown. Reason: Contaminating sequence. Due to an insert of 27 undefined residues.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Ion channel
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ion transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 Ref.1 (identifier: Q7Z5M5-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 Ref.2 (identifier: Q7Z5M5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     722-724: RSE → SIS
     725-1100: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1100	1100	Transmembrane channel-like protein 3		PRO_0000259602
Regions
	Topological domain	1 – 148	148	Cytoplasmic Potential
	Transmembrane	149 – 169	21	Helical; Potential
	Topological domain	170 – 192	23	Extracellular Potential
	Transmembrane	193 – 213	21	Helical; Potential
	Topological domain	214 – 225	12	Cytoplasmic Potential
	Transmembrane	226 – 246	21	Helical; Potential
	Topological domain	247 – 319	73	Extracellular Potential
	Transmembrane	320 – 340	21	Helical; Potential
	Topological domain	341 – 361	21	Cytoplasmic Potential
	Transmembrane	362 – 382	21	Helical; Potential
	Topological domain	383 – 393	11	Extracellular Potential
	Transmembrane	394 – 414	21	Helical; Potential
	Topological domain	415 – 508	94	Cytoplasmic Potential
	Transmembrane	509 – 529	21	Helical; Potential
	Topological domain	530 – 569	40	Extracellular Potential
	Transmembrane	570 – 590	21	Helical; Potential
	Topological domain	591 – 618	28	Cytoplasmic Potential
	Transmembrane	619 – 639	21	Helical; Potential
	Topological domain	640 – 679	40	Extracellular Potential
	Transmembrane	680 – 700	21	Helical; Potential
	Topological domain	701 – 1100	400	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	264	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	722 – 724	3	RSE → SIS in isoform 2.		VSP_052201
	Alternative sequence	725 – 1100	376	Missing in isoform 2.		VSP_052202
	Natural variant	196	1	V → I. Corresponds to variant rs7497202 [ dbSNP | Ensembl ].		VAR_066557
	Natural variant	893	1	C → Y. Ref.4 Corresponds to variant rs11636318 [ dbSNP | Ensembl ].		VAR_066558
	Natural variant	1012	1	R → K. Ref.4 Corresponds to variant rs8031046 [ dbSNP | Ensembl ].		VAR_066559
	Natural variant	1099	1	D → N. Ref.4 Corresponds to variant rs4417518 [ dbSNP | Ensembl ].		VAR_066560
Experimental info
	Sequence conflict	30	1	Missing in AAP78778. Ref.1
	Sequence conflict	168	1	L → V in AAP78778. Ref.1
	Sequence conflict	248	1	K → R in AAP78778. Ref.1
	Sequence conflict	734	1	E → EGK in AAP78778. Ref.1
	Sequence conflict	735	1	A → AA in AAP78778. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 8, 2011. Version 3. Checksum: 727B3B1B766FF6EA	FASTA	1,100	125,685
	10 20 30 40 50 60 MKTSKASQRY RGIRRNASQC YLYQESLLLS NLDDSFSADE TGDSNDPEQI FQNIQFQKDL 70 80 90 100 110 120 MANIRCRPWT MGQKLRALRQ AKNIVLKFEG RLTRTRGYQA AGAELWRKFA RLACNFVVIF 130 140 150 160 170 180 IPWEMRIKKI ESHFGSGVAS YFIFLRWLFG INIVLTIMTG AFIVIPELIA GQPFGSTARK 190 200 210 220 230 240 TIPKEQVSSA QDLDTVWSLG GYLQYSVLFY GYYGRERKIG RAGYRLPLAY FLVGMAVFAY 250 260 270 280 290 300 SFIILLKKMA KNSRTSLASA SNENYTFCWR VFCAWDYLIG NPEAAESKTA AIVNSIREAI 310 320 330 340 350 360 LEEQEKKKSK NLAVTICLRI IANILVLLSL AGSIYLIYFV VDRSQKLEQS KKELTLWEKN 370 380 390 400 410 420 EVSVVVSLVT MIAPSAFDLI AALEMYHPRT TLRFQLARVL VLYLGNLYSL IIALLDKVNS 430 440 450 460 470 480 MSIEEMATKN NTSHWIDSTT FFATRTAPEE EKWSTSRPGM GLRRNNTWAL EETSISAYTM 490 500 510 520 530 540 PLIKANKTSL HTQSPQDQCW ETYVGQEMLK LSIIDMLFTV ASILLIDFFR GLFVRYLSDY 550 560 570 580 590 600 WCWDLESKFP EYGEFKIAEN VLHLVYNQGM IWMGAFFSPC LPAFNVLKLI GLMYLRSWAV 610 620 630 640 650 660 LTCNVPHQQV FRASRSNNFY LAMLLFMLFL CMLPTIFAIV RYKPSLNCGP FSGQEKIYDI 670 680 690 700 710 720 VSETIEKDFP VWFGSVVGHI SSPVVILPAV LLLFMLIYYL QSIARSLKLS NHQLKMQIQN 730 740 750 760 770 780 ARSEDKKKVA QMVEARIQTQ EESTKKLPND SDLTSQLSSA HSGTPQNNGN VAHFDSGSSK 790 800 810 820 830 840 SGRIETVAQS MPQSPRPGDR APSSPLPGVP KSRLEHETNR YLHGLCASTS DLHRNRSRTP 850 860 870 880 890 900 MTFTTHIEDV HSEPLFRKDF QQINPPHRGP QASTLLAQGP RPHAPRYYVI NECDSYKKKH 910 920 930 940 950 960 LNVWPERHFK IDASGDIVEL YPRNVRQYAS RVPRQPPSPQ LSEEEEETPS RDWIKRSLPP 970 980 990 1000 1010 1020 RSLIDLRRAP HFYIGERSES QTRDPEHQGR VHYKSWNEDF EGHLERPAYV PRKPRSRNFQ 1030 1040 1050 1060 1070 1080 YPQPPLKPRG KPRFEPSLTE SDSVSAASSS DQQNSSADQY LQVTHSQGRF PRSVGQPSRR 1090 1100 KAKSGQELTV DLDDLICSDV
	Isoform 2 [UniParc]. Checksum: 3762EBE6905D678E	FASTA	724	82,867
	10 20 30 40 50 60 MKTSKASQRY RGIRRNASQC YLYQESLLLS NLDDSFSADE TGDSNDPEQI FQNIQFQKDL 70 80 90 100 110 120 MANIRCRPWT MGQKLRALRQ AKNIVLKFEG RLTRTRGYQA AGAELWRKFA RLACNFVVIF 130 140 150 160 170 180 IPWEMRIKKI ESHFGSGVAS YFIFLRWLFG INIVLTIMTG AFIVIPELIA GQPFGSTARK 190 200 210 220 230 240 TIPKEQVSSA QDLDTVWSLG GYLQYSVLFY GYYGRERKIG RAGYRLPLAY FLVGMAVFAY 250 260 270 280 290 300 SFIILLKKMA KNSRTSLASA SNENYTFCWR VFCAWDYLIG NPEAAESKTA AIVNSIREAI 310 320 330 340 350 360 LEEQEKKKSK NLAVTICLRI IANILVLLSL AGSIYLIYFV VDRSQKLEQS KKELTLWEKN 370 380 390 400 410 420 EVSVVVSLVT MIAPSAFDLI AALEMYHPRT TLRFQLARVL VLYLGNLYSL IIALLDKVNS 430 440 450 460 470 480 MSIEEMATKN NTSHWIDSTT FFATRTAPEE EKWSTSRPGM GLRRNNTWAL EETSISAYTM 490 500 510 520 530 540 PLIKANKTSL HTQSPQDQCW ETYVGQEMLK LSIIDMLFTV ASILLIDFFR GLFVRYLSDY 550 560 570 580 590 600 WCWDLESKFP EYGEFKIAEN VLHLVYNQGM IWMGAFFSPC LPAFNVLKLI GLMYLRSWAV 610 620 630 640 650 660 LTCNVPHQQV FRASRSNNFY LAMLLFMLFL CMLPTIFAIV RYKPSLNCGP FSGQEKIYDI 670 680 690 700 710 720 VSETIEKDFP VWFGSVVGHI SSPVVILPAV LLLFMLIYYL QSIARSLKLS NHQLKMQIQN ASIS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins." Keresztes G., Mutai H., Heller S. BMC Genomics 4:24-24(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis." Kurima K., Yang Y., Sorber K., Griffith A.J. Genomics 82:300-308(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] 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] (ISOFORM 1), VARIANTS TYR-893; LYS-1012 AND ASN-1099. Tissue: Heart and Lung.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY263163 mRNA. Translation: AAP78778.1. Sequence problems. AY236490 mRNA. Translation: AAP69868.1. AC103858 Genomic DNA. No translation available. BC132679 mRNA. Translation: AAI32680.1. BC143410 mRNA. Translation: AAI43411.1. BC157874 mRNA. Translation: AAI57875.1.
IPI	IPI00374748. IPI00479701.
RefSeq	NP_001074001.1. NM_001080532.1.
UniGene	Hs.253489.
3D structure databases
ProteinModelPortal	Q7Z5M5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000352413.
PTM databases
PhosphoSite	Q7Z5M5.
Polymorphism databases
DMDM	118574369.
Proteomic databases
PaxDb	Q7Z5M5.
PRIDE	Q7Z5M5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359440; ENSP00000352413; ENSG00000188869.
GeneID	342125.
KEGG	hsa:342125.
UCSC	uc002bgp.3. human. uc021ssj.1. human.
Organism-specific databases
CTD	342125.
GeneCards	GC15M081624.
H-InvDB	HIX0202197.
HGNC	HGNC:22995. TMC3.
HPA	HPA040265. HPA040510.
neXtProt	NX_Q7Z5M5.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG78939.
HOGENOM	HOG000168231.
HOVERGEN	HBG036209.
InParanoid	Q7Z5M5.
OMA	HSEPLFR.
OrthoDB	EOG4VX24J.
Gene expression databases
ArrayExpress	Q7Z5M5.
CleanEx	HS_TMC3.
Genevestigator	Q7Z5M5.
Family and domain databases
InterPro	IPR012496. TMC. [Graphical view]
Pfam	PF07810. TMC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	342125.
NextBio	98231.

Entry information

Entry name

TMC3_HUMAN

Accession

Primary (citable) accession number: Q7Z5M5
Secondary accession number(s): A2RTY2, B2RXJ3, Q7Z405

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	March 8, 2011
Last modified:	May 1, 2013
This is version 63 of the entry and version 3 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.