Q9NPI0 (TM138_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protein 138

Gene names

Name:	TMEM138
ORF Names:	HSPC196, HSPC198

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	162 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for ciliogenesis. Ref.6
Subcellular location	Vacuole membrane; Multi-pass membrane protein. Cell projection › cilium. Note: Localizes to vesicles en route to the base of cilium. Ref.6
Involvement in disease	Joubert syndrome 16 (JBTS16) [MIM:614465]: An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Miscellaneous	TMEM138 and TMEM216 genes are adjacent and are aligned in a head-to-tail configuration. They share some cis regulatory region and display coordinated expression. Genes were joined by chromoaomal rearrangement at the amphiboan to reptile evolutionary transition around 340 million years ago (Ref.6).
Sequence similarities	Belongs to the TMEM138 family.
Sequence caution	The sequence CAI46174.1 differs from that shown. Reason: Frameshift at position 101.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell projection Cilium Membrane Vacuole
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Disease mutation Joubert syndrome
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cilium assembly Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular_component	cilium Inferred from direct assay Ref.6. Source: UniProtKB integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW vacuolar membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NPI0-1)

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 (identifier: Q9NPI0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     101-101: N → VRVAV
     102-162: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9NPI0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     126-162: AAVLYCYFYK...LRKEFMQVRR → GKDQSKVRPL...NRRDYCPCPC

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 162	162	Transmembrane protein 138		PRO_0000285700
Regions
	Transmembrane	7 – 27	21	Helical; Potential
	Transmembrane	41 – 61	21	Helical; Potential
	Transmembrane	80 – 100	21	Helical; Potential
	Transmembrane	110 – 130	21	Helical; Potential
Amino acid modifications
	Glycosylation	6	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	101	1	N → VRVAV in isoform 2.		VSP_024891
	Alternative sequence	102 – 162	61	Missing in isoform 2.		VSP_024892
	Alternative sequence	126 – 162	37	AAVLY…MQVRR → GKDQSKVRPLSGPTCVSFSE GLDAGFPDLSQLAWDGCDSH TRNRRDYCPCPC in isoform 3.		VSP_042588
	Natural variant	96	1	H → R in JBTS16. Ref.6		VAR_067059
	Natural variant	126	1	A → T in JBTS16. Ref.6		VAR_067060
	Natural variant	127	1	A → V in JBTS16. Ref.6		VAR_067061
	Natural variant	130	1	Y → C in JBTS16. Ref.6		VAR_067062

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 31D76DD5C95333DE	FASTA	162	19,262
	10 20 30 40 50 60 MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL FNIIIIFLMF 70 80 90 100 110 120 FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM NLRWKNSNSF IWTDGLQMLF 130 140 150 160 VFQRLAAVLY CYFYKRTAVR LGDPHFYQDS LWLRKEFMQV RR
	Isoform 2 [UniParc]. Checksum: F49B96D502046FDB	FASTA	105	12,080
	10 20 30 40 50 60 MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL FNIIIIFLMF 70 80 90 100 FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM VRVAV
	Isoform 3 [UniParc]. Checksum: 45E38810929CE818	FASTA	177	20,308
	10 20 30 40 50 60 MLQTSNYSLV LSLQFLLLSY DLFVNSFSEL LQKTPVIQLV LFIIQDIAVL FNIIIIFLMF 70 80 90 100 110 120 FNTFVFQAGL VNLLFHKFKG TIILTAVYFA LSISLHVWVM NLRWKNSNSF IWTDGLQMLF 130 140 150 160 170 VFQRLGKDQS KVRPLSGPTC VSFSEGLDAG FPDLSQLAWD GCDSHTRNRR DYCPCPC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Thymus.
[2]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Umbilical cord blood.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Lymph node.
[4]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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). Tissue: Urinary bladder.
[6]	"Evolutionarily assembled cis-regulatory module at a human ciliopathy locus." Lee J.H., Silhavy J.L., Lee J.E., Al-Gazali L., Thomas S., Davis E.E., Bielas S.L., Hill K.J., Iannicelli M., Brancati F., Gabriel S.B., Russ C., Logan C.V., Sharif S.M., Bennett C.P., Abe M., Hildebrandt F., Diplas B.H. , Attie-Bitach T., Katsanis N., Rajab A., Koul R., Sztriha L., Waters E.R., Ferro-Novick S., Woods G.C., Johnson C.A., Valente E.M., Zaki M.S., Gleeson J.G. Science 335:966-969(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS JBTS16 ARG-96; THR-126; VAL-127 AND CYS-130, FUNCTION, SUBCELLULAR LOCATION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK303219 mRNA. Translation: BAG64306.1. AF151030 mRNA. Translation: AAF36116.1. AF151032 mRNA. Translation: AAF36118.1. AL832879 Transcribed RNA. Translation: CAI46174.1. Frameshift. AP003108 Genomic DNA. No translation available. BC005201 mRNA. Translation: AAH05201.1.
IPI	IPI00009350. IPI01017976.
RefSeq	NP_057548.1. NM_016464.4.
UniGene	Hs.406530.
3D structure databases
ProteinModelPortal	Q9NPI0.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000371206.
Polymorphism databases
DMDM	74734306.
Proteomic databases
PRIDE	Q9NPI0.
Protocols and materials databases
DNASU	51524.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000278826; ENSP00000278826; ENSG00000149483. ENST00000542946; ENSP00000445792; ENSG00000149483.
GeneID	51524.
KEGG	hsa:51524.
UCSC	uc001nrl.2. human.
Organism-specific databases
CTD	51524.
GeneCards	GC11P061129.
H-InvDB	HIX0009688.
HGNC	HGNC:26944. TMEM138.
HPA	HPA042373.
MIM	614459. gene. 614465. phenotype.
neXtProt	NX_Q9NPI0.
Orphanet	2318. Joubert syndrome with oculorenal defect.
PharmGKB	PA144596259.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG86634.
HOGENOM	HOG000039473.
HOVERGEN	HBG056163.
InParanoid	Q9NPI0.
OMA	SNSFVWT.
OrthoDB	EOG4T1HNW.
PhylomeDB	Q9NPI0.
Gene expression databases
Bgee	Q9NPI0.
CleanEx	HS_TMEM138.
Genevestigator	Q9NPI0.
Family and domain databases
InterPro	IPR024133. TM_138. [Graphical view]
PANTHER	PTHR13306. PTHR13306. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	TMEM138. human.
GenomeRNAi	51524.
NextBio	55232.
SOURCE	Search...

Entry information

Entry name

TM138_HUMAN

Accession

Primary (citable) accession number: Q9NPI0
Secondary accession number(s): A6NGA7, B4E044, Q5JPE1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 2007
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 76 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.