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O43736

- ITM2A_HUMAN

UniProt

O43736 - ITM2A_HUMAN

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Protein

Integral membrane protein 2A

Gene

ITM2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Integral membrane protein 2A
Alternative name(s):
Protein E25
Gene namesi
Name:ITM2A
ORF Names:UNQ603/PRO1189
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:6173. ITM2A.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

Orphaneti2227. Hypodontia.
PharmGKBiPA29970.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 263263Integral membrane protein 2APRO_0000154818Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi160 ↔ 219By similarity
Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO43736.
PaxDbiO43736.
PRIDEiO43736.

PTM databases

PhosphoSiteiO43736.

Expressioni

Gene expression databases

BgeeiO43736.
CleanExiHS_ITM2A.
GenevestigatoriO43736.

Organism-specific databases

HPAiHPA002918.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
APPP05067-43EBI-2431769,EBI-302641

Protein-protein interaction databases

BioGridi114841. 2 interactions.
IntActiO43736. 1 interaction.
STRINGi9606.ENSP00000362395.

Structurei

3D structure databases

ProteinModelPortaliO43736.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei54 – 7421Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini133 – 22795BRICHOSPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the ITM2 family.Curated
Contains 1 BRICHOS domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG283703.
GeneTreeiENSGT00390000005162.
HOGENOMiHOG000231259.
HOVERGENiHBG059373.
InParanoidiO43736.
KOiK18241.
OMAiPYFLPVT.
OrthoDBiEOG70KGQD.
PhylomeDBiO43736.
TreeFamiTF317770.

Family and domain databases

InterProiIPR007084. BRICHOS_dom.
[Graphical view]
PfamiPF04089. BRICHOS. 1 hit.
[Graphical view]
SMARTiSM01039. BRICHOS. 1 hit.
[Graphical view]
PROSITEiPS50869. BRICHOS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O43736-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MVKIAFNTPT AVQKEEARQD VEALLSRTVR TQILTGKELR VATQEKEGSS
60 70 80 90 100
GRCMLTLLGL SFILAGLIVG GACIYKYFMP KSTIYRGEMC FFDSEDPANS
110 120 130 140 150
LRGGEPNFLP VTEEADIRED DNIAIIDVPV PSFSDSDPAA IIHDFEKGMT
160 170 180 190 200
AYLDLLLGNC YLMPLNTSIV MPPKNLVELF GKLASGRYLP QTYVVREDLV
210 220 230 240 250
AVEEIRDVSN LGIFIYQLCN NRKSFRLRRR DLLLGFNKRA IDKCWKIRHF
260
PNEFIVETKI CQE
Length:263
Mass (Da):29,741
Last modified:July 15, 1999 - v2
Checksum:iC565E2F80FE223BD
GO
Isoform 2 (identifier: O43736-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-80: Missing.

Note: No experimental confirmation available.

Show »
Length:219
Mass (Da):24,994
Checksum:iA137AFA960AFED48
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti263 – 2631E → D in CAG33156. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721A → V.
Corresponds to variant rs35056863 [ dbSNP | Ensembl ].
VAR_034029
Natural varianti230 – 2301R → T.
Corresponds to variant rs35629312 [ dbSNP | Ensembl ].
VAR_034030

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei37 – 8044Missing in isoform 2. 1 PublicationVSP_042562Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF038953 mRNA. Translation: AAC39867.1.
AY359051 mRNA. Translation: AAQ89410.1.
AK303238 mRNA. Translation: BAG64324.1.
AK313154 mRNA. Translation: BAG35972.1.
CR456875 mRNA. Translation: CAG33156.1.
AL009028, AL021786 Genomic DNA. Translation: CAI42363.1.
AL021786, AL009028 Genomic DNA. Translation: CAI43020.1.
CH471104 Genomic DNA. Translation: EAW98591.1.
BC040437 mRNA. Translation: AAH40437.1.
CCDSiCCDS14444.1. [O43736-1]
CCDS55455.1. [O43736-2]
RefSeqiNP_001165052.1. NM_001171581.1. [O43736-2]
NP_004858.1. NM_004867.4. [O43736-1]
UniGeneiHs.17109.
Hs.694944.

Genome annotation databases

EnsembliENST00000373298; ENSP00000362395; ENSG00000078596. [O43736-1]
ENST00000434584; ENSP00000415533; ENSG00000078596. [O43736-2]
GeneIDi9452.
KEGGihsa:9452.
UCSCiuc004edh.3. human. [O43736-1]
uc011mqr.2. human. [O43736-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF038953 mRNA. Translation: AAC39867.1 .
AY359051 mRNA. Translation: AAQ89410.1 .
AK303238 mRNA. Translation: BAG64324.1 .
AK313154 mRNA. Translation: BAG35972.1 .
CR456875 mRNA. Translation: CAG33156.1 .
AL009028 , AL021786 Genomic DNA. Translation: CAI42363.1 .
AL021786 , AL009028 Genomic DNA. Translation: CAI43020.1 .
CH471104 Genomic DNA. Translation: EAW98591.1 .
BC040437 mRNA. Translation: AAH40437.1 .
CCDSi CCDS14444.1. [O43736-1 ]
CCDS55455.1. [O43736-2 ]
RefSeqi NP_001165052.1. NM_001171581.1. [O43736-2 ]
NP_004858.1. NM_004867.4. [O43736-1 ]
UniGenei Hs.17109.
Hs.694944.

3D structure databases

ProteinModelPortali O43736.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114841. 2 interactions.
IntActi O43736. 1 interaction.
STRINGi 9606.ENSP00000362395.

PTM databases

PhosphoSitei O43736.

Proteomic databases

MaxQBi O43736.
PaxDbi O43736.
PRIDEi O43736.

Protocols and materials databases

DNASUi 9452.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000373298 ; ENSP00000362395 ; ENSG00000078596 . [O43736-1 ]
ENST00000434584 ; ENSP00000415533 ; ENSG00000078596 . [O43736-2 ]
GeneIDi 9452.
KEGGi hsa:9452.
UCSCi uc004edh.3. human. [O43736-1 ]
uc011mqr.2. human. [O43736-2 ]

Organism-specific databases

CTDi 9452.
GeneCardsi GC0XM078615.
HGNCi HGNC:6173. ITM2A.
HPAi HPA002918.
MIMi 300222. gene.
neXtProti NX_O43736.
Orphaneti 2227. Hypodontia.
PharmGKBi PA29970.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG283703.
GeneTreei ENSGT00390000005162.
HOGENOMi HOG000231259.
HOVERGENi HBG059373.
InParanoidi O43736.
KOi K18241.
OMAi PYFLPVT.
OrthoDBi EOG70KGQD.
PhylomeDBi O43736.
TreeFami TF317770.

Miscellaneous databases

GeneWikii ITM2A.
GenomeRNAii 9452.
NextBioi 35408.
PROi O43736.
SOURCEi Search...

Gene expression databases

Bgeei O43736.
CleanExi HS_ITM2A.
Genevestigatori O43736.

Family and domain databases

InterProi IPR007084. BRICHOS_dom.
[Graphical view ]
Pfami PF04089. BRICHOS. 1 hit.
[Graphical view ]
SMARTi SM01039. BRICHOS. 1 hit.
[Graphical view ]
PROSITEi PS50869. BRICHOS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
    Mao M., Fu G., Wu J.-S., Zhang Q.-H., Zhou J., Kan L.-X., Huang Q.-H., He K.-L., Gu B.-W., Han Z.-G., Shen Y., Gu J., Yu Y.-P., Xu S.-H., Wang Y.-X., Chen S.-J., Chen Z.
    Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Umbilical cord blood.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "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] (ISOFORMS 1 AND 2).
    Tissue: Brain and Thymus.
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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: Pancreas.

Entry informationi

Entry nameiITM2A_HUMAN
AccessioniPrimary (citable) accession number: O43736
Secondary accession number(s): B2R7X5, B4E062, Q6IBC9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: October 29, 2014
This is version 125 of the entry and version 2 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 X
    Human chromosome X: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3