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P78381 (S35A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
UDP-galactose translocator
Alternative name(s):
Solute carrier family 35 member A2
UDP-galactose transporter
Short name=UDP-Gal-Tr
Short name=UGT
Gene names
Name:SLC35A2
Synonyms:UGALT, UGT, UGTL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length396 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function.

Subunit structure

Interacts with SLC35A3. Ref.9

Subcellular location

Golgi apparatus membrane; Multi-pass membrane protein.

Involvement in disease

Congenital disorder of glycosylation 2M (CDG2M) [MIM:300896]: A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SLC35A3Q9Y2D23EBI-8101118,EBI-3917581

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P78381-1)

Also known as: UGT2;

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: P78381-2)

Also known as: UGT1;

The sequence of this isoform differs from the canonical sequence as follows:
     389-396: LLTKVKGS → SVLVK
Isoform 3 (identifier: P78381-3)

The sequence of this isoform differs from the canonical sequence as follows:
     143-396: VTYQLKILTT...PKLLTKVKGS → PSPRCSQSHS...FGRWSFLPGH
Isoform 4 (identifier: P78381-4)

The sequence of this isoform differs from the canonical sequence as follows:
     30-30: A → AELLLTWEEAEARGQGLPQPLPDTSVRIP
     389-396: LLTKVKGS → SVLVK
Note: No experimental confirmation available.
Isoform 5 (identifier: P78381-5)

The sequence of this isoform differs from the canonical sequence as follows:
     31-91: Missing.
     389-396: LLTKVKGS → SVLVK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 396396UDP-galactose translocator
PRO_0000213353

Regions

Transmembrane3 – 2321Helical; Potential
Transmembrane37 – 5721Helical; Potential
Transmembrane65 – 8521Helical; Potential
Transmembrane97 – 11721Helical; Potential
Transmembrane140 – 16021Helical; Potential
Transmembrane169 – 18921Helical; Potential
Transmembrane200 – 22021Helical; Potential
Transmembrane238 – 25821Helical; Potential
Transmembrane269 – 28921Helical; Potential
Transmembrane315 – 33521Helical; Potential

Natural variations

Alternative sequence301A → AELLLTWEEAEARGQGLPQP LPDTSVRIP in isoform 4.
VSP_054335
Alternative sequence31 – 9161Missing in isoform 5.
VSP_055197
Alternative sequence143 – 396254VTYQL…KVKGS → PSPRCSQSHSLCLCLRLRAL RSPAASRAATTTAAVFPPWR PHHGALSAKVSAGEVRAGSN GGTQGRGTGVEGVGHLQDPS RHPPGPGSSGFGRWSFLPGH in isoform 3.
VSP_042029
Alternative sequence389 – 3968LLTKVKGS → SVLVK in isoform 2, isoform 4 and isoform 5.
VSP_003728
Natural variant2521W → C in a breast cancer sample; somatic mutation. Ref.10
VAR_036579
Natural variant3311V → I in CDG2M. Ref.11
VAR_069773

Experimental info

Sequence conflict851L → P in BAF82973. Ref.5
Sequence conflict1101V → A in BAG60694. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (UGT2) [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 6EC1DC9532FE9221

FASTA39641,307
        10         20         30         40         50         60 
MAAVGAGGST AAPGPGAVSA GALEPGTASA AHRRLKYISL AVLVVQNASL ILSIRYARTL 

        70         80         90        100        110        120 
PGDRFFATTA VVMAEVLKGL TCLLLLFAQK RGNVKHLVLF LHEAVLVQYV DTLKLAVPSL 

       130        140        150        160        170        180 
IYTLQNNLQY VAISNLPAAT FQVTYQLKIL TTALFSVLML NRSLSRLQWA SLLLLFTGVA 

       190        200        210        220        230        240 
IVQAQQAGGG GPRPLDQNPG AGLAAVVASC LSSGFAGVYF EKILKGSSGS VWLRNLQLGL 

       250        260        270        280        290        300 
FGTALGLVGL WWAEGTAVAT RGFFFGYTPA VWGVVLNQAF GGLLVAVVVK YADNILKGFA 

       310        320        330        340        350        360 
TSLSIVLSTV ASIRLFGFHV DPLFALGAGL VIGAVYLYSL PRGAAKAIAS ASASASGPCV 

       370        380        390 
HQQPPGQPPP PQLSSHRGDL ITEPFLPKLL TKVKGS 

« Hide

Isoform 2 (UGT1) [UniParc].

Checksum: 34D31807D3805A7A
Show »

FASTA39341,007
Isoform 3 [UniParc].

Checksum: 7AB122B6343CC9EC
Show »

FASTA24225,184
Isoform 4 [UniParc].

Checksum: 11D42242F410B56C
Show »

FASTA42144,106
Isoform 5 [UniParc].

Checksum: 7FC8A3C442E4C31B
Show »

FASTA33234,194

References

« Hide 'large scale' references
[1]"Human UDP-galactose translocator: molecular cloning of a complementary DNA that complements the genetic defect of a mutant cell line deficient in UDP-galactose translocator."
Miura N., Ishida N., Hoshino M., Yamauchi M., Hara T., Ayusawa D., Kawakita M.
J. Biochem. 120:236-241(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family."
Ishida N., Miura N., Yoshioka S., Kawakita M.
J. Biochem. 120:1074-1078(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Fibroblast.
[3]"The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus."
Hara T., Yamauchi M., Takahashi E., Hoshino M., Aoki K., Ayusawa D., Kawakita M.
Somat. Cell Mol. Genet. 19:571-575(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Genomic organization of the human UDP-galactose transporter gene."
Ishida N., Miura N., Yamauchi M., Kawakita M.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"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. expand/collapse author list , 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 2; 3; 4 AND 5).
Tissue: Colon, Lymphoblast and Trachea.
[6]"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. expand/collapse author list , 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].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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 3).
Tissue: Pancreas.
[9]"UDP-N-acetylglucosamine transporter and UDP-galactose transporter form heterologous complexes in the Golgi membrane."
Maszczak-Seneczko D., Sosicka P., Majkowski M., Olczak T., Olczak M.
FEBS Lett. 586:4082-4087(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SLC35A3.
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-252.
[11]"Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation."
University of Washington Center for Mendelian Genomics
Ng B.G., Buckingham K.J., Raymond K., Kircher M., Turner E.H., He M., Smith J.D., Eroshkin A., Szybowska M., Losfeld M.E., Chong J.X., Kozenko M., Li C., Patterson M.C., Gilbert R.D., Nickerson D.A., Shendure J., Bamshad M.J., Freeze H.H.
Am. J. Hum. Genet. 92:632-636(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDG2M ILE-331.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D88146 mRNA. Translation: BAA13545.1.
D84454 mRNA. Translation: BAA12673.1.
AB042425 Genomic DNA. Translation: BAA95614.1.
AB042425 Genomic DNA. Translation: BAA95615.1.
AK290284 mRNA. Translation: BAF82973.1.
AK292816 mRNA. Translation: BAF85505.1.
AK293415 mRNA. Translation: BAG56922.1.
AK298484 mRNA. Translation: BAG60694.1.
AF207550 Genomic DNA. No translation available.
CH471224 Genomic DNA. Translation: EAW50733.1.
CH471224 Genomic DNA. Translation: EAW50734.1.
BC035747 mRNA. Translation: AAH35747.1.
CCDSCCDS14311.1. [P78381-1]
CCDS35247.1. [P78381-3]
CCDS43937.1. [P78381-2]
PIRJC5022.
RefSeqNP_001027460.1. NM_001032289.2. [P78381-3]
NP_001035963.1. NM_001042498.2. [P78381-2]
NP_001269576.1. NM_001282647.1.
NP_001269577.1. NM_001282648.1.
NP_001269578.1. NM_001282649.1.
NP_001269579.1. NM_001282650.1.
NP_001269580.1. NM_001282651.1. [P78381-4]
NP_005651.1. NM_005660.2. [P78381-1]
UniGeneHs.21899.

3D structure databases

ProteinModelPortalP78381.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113202. 2 interactions.
IntActP78381. 3 interactions.
STRING9606.ENSP00000247138.

Protein family/group databases

TCDB2.A.7.12.6. the drug/metabolite transporter (dmt) superfamily.

PTM databases

PhosphoSiteP78381.

Polymorphism databases

DMDM2499228.

Proteomic databases

MaxQBP78381.
PaxDbP78381.
PRIDEP78381.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000247138; ENSP00000247138; ENSG00000102100. [P78381-1]
ENST00000376521; ENSP00000365704; ENSG00000102100. [P78381-2]
ENST00000413561; ENSP00000393233; ENSG00000102100.
ENST00000445167; ENSP00000402726; ENSG00000102100. [P78381-3]
ENST00000452555; ENSP00000416002; ENSG00000102100.
ENST00000595933; ENSP00000469795; ENSG00000267929. [P78381-2]
ENST00000597583; ENSP00000470429; ENSG00000267929. [P78381-3]
ENST00000598078; ENSP00000468886; ENSG00000267929. [P78381-1]
GeneID7355.
KEGGhsa:7355.
UCSCuc004dlo.1. human. [P78381-1]
uc004dlp.1. human. [P78381-2]
uc004dlq.3. human. [P78381-3]

Organism-specific databases

CTD7355.
GeneCardsGC0XM048760.
HGNCHGNC:11022. SLC35A2.
HPAHPA036087.
MIM300896. phenotype.
314375. gene.
neXtProtNX_P78381.
Orphanet356961. SLC35A2-CDG.
PharmGKBPA35890.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0697.
HOGENOMHOG000231358.
HOVERGENHBG071267.
InParanoidP78381.
KOK15272.
OMACMRESGG.
PhylomeDBP78381.
TreeFamTF315345.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP78381.
BgeeP78381.
CleanExHS_SLC35A2.
GenevestigatorP78381.

Family and domain databases

InterProIPR007271. Nuc_sug_transpt.
IPR021189. UDP/CMP-sugar_transptr.
IPR004689. UDPgal_transpt.
[Graphical view]
PANTHERPTHR10231. PTHR10231. 1 hit.
PfamPF04142. Nuc_sug_transp. 1 hit.
[Graphical view]
PIRSFPIRSF005799. UDP-gal_transpt. 1 hit.
TIGRFAMsTIGR00803. nst. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSLC35A2. human.
GeneWikiSLC35A2.
GenomeRNAi7355.
NextBio28796.
PROP78381.
SOURCESearch...

Entry information

Entry nameS35A2_HUMAN
AccessionPrimary (citable) accession number: P78381
Secondary accession number(s): A8K2L9 expand/collapse secondary AC list , A8K9V1, B4DE11, B4DPT2, E7EW45, Q8IV21, Q92553
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: July 9, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM