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Q9P283 (SEM5B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Semaphorin-5B
Gene names
Name:SEMA5B
Synonyms:KIAA1445, SEMAG
ORF Names:UNQ5867/PRO34001
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1151 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May act as positive axonal guidance cues By similarity.

Subcellular location

Membrane; Single-pass type III membrane protein.

Sequence similarities

Belongs to the semaphorin family.

Contains 1 PSI domain.

Contains 1 Sema domain.

Contains 5 TSP type-1 domains.

Caution

It is uncertain whether Met-1 or Met-59 is the initiator.

Sequence caution

The sequence BAA91570.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA95969.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal-anchor
Transmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

nervous system development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionreceptor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P283-1)

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: Q9P283-2)

The sequence of this isoform differs from the canonical sequence as follows:
     760-760: Missing.
     966-966: Missing.
     1032-1151: FNLIHLVATG...SPGQRCFPNS → KRNRTYLMLR...ASPASWALGS
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9P283-3)

The sequence of this isoform differs from the canonical sequence as follows:
     944-964: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9P283-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLHLSAEEAIGCVRVRRSFIDELAFGRGHSTGTGKQKRRDRVSGSSWCLACVSWM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11511151Semaphorin-5B
PRO_0000032337

Regions

Topological domain1 – 10361036Extracellular Potential
Transmembrane1037 – 105721Helical; Signal-anchor for type III membrane protein; Potential
Topological domain1058 – 115194Cytoplasmic Potential
Domain103 – 553451Sema
Domain664 – 72057TSP type-1 1
Domain722 – 77150TSP type-1 2
Domain853 – 90856TSP type-1 3
Domain910 – 96556TSP type-1 4
Domain966 – 101045TSP type-1 5

Amino acid modifications

Glycosylation1531N-linked (GlcNAc...) Potential
Glycosylation2361N-linked (GlcNAc...) Potential
Glycosylation3451N-linked (GlcNAc...) Potential
Glycosylation4361N-linked (GlcNAc...) Potential
Glycosylation7881O-linked (GalNAc...) Potential
Disulfide bond172 ↔ 182 By similarity
Disulfide bond199 ↔ 208 By similarity
Disulfide bond322 ↔ 425 By similarity
Disulfide bond346 ↔ 388 By similarity
Disulfide bond556 ↔ 573 By similarity
Disulfide bond565 ↔ 582 By similarity
Disulfide bond676 ↔ 713 By similarity
Disulfide bond680 ↔ 719 By similarity
Disulfide bond691 ↔ 703 By similarity
Disulfide bond734 ↔ 765 By similarity
Disulfide bond738 ↔ 770 By similarity
Disulfide bond749 ↔ 755 By similarity
Disulfide bond865 ↔ 902 By similarity
Disulfide bond869 ↔ 907 By similarity
Disulfide bond880 ↔ 892 By similarity
Disulfide bond922 ↔ 959 By similarity
Disulfide bond926 ↔ 964 By similarity
Disulfide bond937 ↔ 949 By similarity

Natural variations

Alternative sequence11M → MLHLSAEEAIGCVRVRRSFI DELAFGRGHSTGTGKQKRRD RVSGSSWCLACVSWM in isoform 4.
VSP_044748
Alternative sequence7601Missing in isoform 2.
VSP_029462
Alternative sequence944 – 96421Missing in isoform 3.
VSP_029463
Alternative sequence9661Missing in isoform 2.
VSP_029464
Alternative sequence1032 – 1151120FNLIH…CFPNS → KRNRTYLMLRSSQPSSTPLQ SLDSFHILLQTAKLCWGPHC FEMGSISSTWWPRASPASWA LGS in isoform 2.
VSP_029465
Natural variant421G → S in a breast cancer sample; somatic mutation. Ref.7
VAR_037196
Natural variant2201I → T. Ref.1 Ref.3
Corresponds to variant rs2276774 [ dbSNP | Ensembl ].
VAR_037197
Natural variant2231I → M in a breast cancer sample; somatic mutation. Ref.7
VAR_037198
Natural variant7421M → T. Ref.3
Corresponds to variant rs2276781 [ dbSNP | Ensembl ].
VAR_037199
Natural variant8401V → D. Ref.1 Ref.3 Ref.6
Corresponds to variant rs2276782 [ dbSNP | Ensembl ].
VAR_037200
Natural variant9961S → P.
Corresponds to variant rs35306342 [ dbSNP | Ensembl ].
VAR_037201
Natural variant10281D → G. Ref.1 Ref.3 Ref.6
Corresponds to variant rs2303983 [ dbSNP | Ensembl ].
VAR_037202

Experimental info

Sequence conflict7031C → F in AAQ88491. Ref.2
Isoform 4:
Sequence conflict141R → K in BAH12129. Ref.3

Sequences

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

Last modified November 4, 2008. Version 4.
Checksum: 96B1D4BC2A1E36C9

FASTA1,151125,913
        10         20         30         40         50         60 
MPCGFSPSPV AHHLVPGPPD TPAQQLRCGW TVGGWLLSLV RGLLPCLPPG ARTAEGPIMV 

        70         80         90        100        110        120 
LAGPLAVSLL LPSLTLLVSH LSSSQDVSSE PSSEQQLCAL SKHPTVAFED LQPWVSNFTY 

       130        140        150        160        170        180 
PGARDFSQLA LDPSGNQLIV GARNYLFRLS LANVSLLQAT EWASSEDTRR SCQSKGKTEE 

       190        200        210        220        230        240 
ECQNYVRVLI VAGRKVFMCG TNAFSPMCTS RQVGNLSRTI EKINGVARCP YDPRHNSTAV 

       250        260        270        280        290        300 
ISSQGELYAA TVIDFSGRDP AIYRSLGSGP PLRTAQYNSK WLNEPNFVAA YDIGLFAYFF 

       310        320        330        340        350        360 
LRENAVEHDC GRTVYSRVAR VCKNDVGGRF LLEDTWTTFM KARLNCSRPG EVPFYYNELQ 

       370        380        390        400        410        420 
SAFHLPEQDL IYGVFTTNVN SIAASAVCAF NLSAISQAFN GPFRYQENPR AAWLPIANPI 

       430        440        450        460        470        480 
PNFQCGTLPE TGPNENLTER SLQDAQRLFL MSEAVQPVTP EPCVTQDSVR FSHLVVDLVQ 

       490        500        510        520        530        540 
AKDTLYHVLY IGTESGTILK ALSTASRSLH GCYLEELHVL PPGRREPLRS LRILHSARAL 

       550        560        570        580        590        600 
FVGLRDGVLR VPLERCAAYR SQGACLGARD PYCGWDGKQQ RCSTLEDSSN MSLWTQNITA 

       610        620        630        640        650        660 
CPVRNVTRDG GFGPWSPWQP CEHLDGDNSG SCLCRARSCD SPRPRCGGLD CLGPAIHIAN 

       670        680        690        700        710        720 
CSRNGAWTPW SSWALCSTSC GIGFQVRQRS CSNPAPRHGG RICVGKSREE RFCNENTPCP 

       730        740        750        760        770        780 
VPIFWASWGS WSKCSSNCGG GMQSRRRACE NGNSCLGCGV EFKTCNPEGC PEVRRNTPWT 

       790        800        810        820        830        840 
PWLPVNVTQG GARQEQRFRF TCRAPLADPH GLQFGRRRTE TRTCPADGSG SCDTDALVEV 

       850        860        870        880        890        900 
LLRSGSTSPH TVSGGWAAWG PWSSCSRDCE LGFRVRKRTC TNPEPRNGGL PCVGDAAEYQ 

       910        920        930        940        950        960 
DCNPQACPVR GAWSCWTSWS PCSASCGGGH YQRTRSCTSP APSPGEDICL GLHTEEALCA 

       970        980        990       1000       1010       1020 
TQACPEGWSP WSEWSKCTDD GAQSRSRHCE ELLPGSSACA GNSSQSRPCP YSEIPVILPA 

      1030       1040       1050       1060       1070       1080 
SSMEEATDCA GFNLIHLVAT GISCFLGSGL LTLAVYLSCQ HCQRQSQEST LVHPATPNHL 

      1090       1100       1110       1120       1130       1140 
HYKGGGTPKN EKYTPMEFKT LNKNNLIPDD RANFYPLQQT NVYTTTYYPS PLNKHSFRPE 

      1150 
ASPGQRCFPN S 

« Hide

Isoform 2 [UniParc].

Checksum: 3F9AF6108E99CD23
Show »

FASTA1,092119,280
Isoform 3 [UniParc].

Checksum: 20ECAB8D936AE0FA
Show »

FASTA1,130123,757
Isoform 4 [UniParc].

Checksum: 9EA9AB44CC93588D
Show »

FASTA1,205131,904

References

[1]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-220; ASP-840 AND GLY-1028.
Tissue: Brain.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[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. 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 1 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 935-1151 (ISOFORM 3), VARIANTS THR-220; THR-742; ASP-840 AND GLY-1028.
Tissue: Brain and Hippocampus.
[4]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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 ASP-840 AND GLY-1028.
Tissue: Ovary.
[7]"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: VARIANTS [LARGE SCALE ANALYSIS] SER-42 AND MET-223.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB040878 mRNA. Translation: BAA95969.1. Different initiation.
AY358124 mRNA. Translation: AAQ88491.1.
AK001234 mRNA. Translation: BAA91570.1. Different initiation.
AK291407 mRNA. Translation: BAF84096.1.
AK295619 mRNA. Translation: BAH12129.1.
AC078794 Genomic DNA. No translation available.
AC083797 Genomic DNA. No translation available.
AC109130 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79457.1.
BC077726 mRNA. Translation: AAH77726.1.
CCDSCCDS35491.1. [Q9P283-1]
CCDS58848.1. [Q9P283-4]
RefSeqNP_001026872.2. NM_001031702.3. [Q9P283-1]
NP_001243275.1. NM_001256346.1. [Q9P283-1]
NP_001243276.1. NM_001256347.1. [Q9P283-4]
UniGeneHs.210870.

3D structure databases

ProteinModelPortalQ9P283.
SMRQ9P283. Positions 104-592, 608-720, 725-774, 779-907, 911-1015.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119953. 8 interactions.
IntActQ9P283. 8 interactions.
MINTMINT-8247359.

PTM databases

PhosphoSiteQ9P283.

Polymorphism databases

DMDM212276522.

Proteomic databases

PaxDbQ9P283.
PRIDEQ9P283.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357599; ENSP00000350215; ENSG00000082684. [Q9P283-1]
ENST00000451055; ENSP00000389588; ENSG00000082684. [Q9P283-4]
GeneID54437.
KEGGhsa:54437.
UCSCuc003efz.2. human. [Q9P283-1]

Organism-specific databases

CTD54437.
GeneCardsGC03M122628.
H-InvDBHIX0020193.
HGNCHGNC:10737. SEMA5B.
HPAHPA017084.
MIM609298. gene.
neXtProtNX_Q9P283.
PharmGKBPA35659.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG316291.
HOVERGENHBG062356.
InParanoidQ9P283.
KOK06841.
OMASRSRHCE.
OrthoDBEOG7SN8C0.
PhylomeDBQ9P283.
TreeFamTF329951.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ9P283.
BgeeQ9P283.
CleanExHS_SEMA5B.
GenevestigatorQ9P283.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR016201. Plexin-like_fold.
IPR002165. Plexin_repeat.
IPR001627. Semap_dom.
IPR027231. Semaphorin.
IPR000884. Thrombospondin_1_rpt.
IPR015943. WD40/YVTN_repeat-like_dom.
[Graphical view]
PANTHERPTHR11036. PTHR11036. 1 hit.
PfamPF01437. PSI. 1 hit.
PF01403. Sema. 1 hit.
PF00090. TSP_1. 5 hits.
[Graphical view]
SMARTSM00423. PSI. 1 hit.
SM00630. Sema. 1 hit.
SM00209. TSP1. 5 hits.
[Graphical view]
SUPFAMSSF101912. SSF101912. 1 hit.
SSF103575. SSF103575. 1 hit.
SSF82895. SSF82895. 5 hits.
PROSITEPS51004. SEMA. 1 hit.
PS50092. TSP1. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi54437.
NextBio56654.
PROQ9P283.
SOURCESearch...

Entry information

Entry nameSEM5B_HUMAN
AccessionPrimary (citable) accession number: Q9P283
Secondary accession number(s): A8K5U2 expand/collapse secondary AC list , B7Z393, F8W9U8, Q6DD89, Q6UY12, Q9NW17
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: November 4, 2008
Last modified: July 9, 2014
This is version 113 of the entry and version 4 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 3

Human chromosome 3: entries, gene names and cross-references to MIM