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Q53EP0 (FND3B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 80. 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:
Fibronectin type III domain-containing protein 3B
Alternative name(s):
Factor for adipocyte differentiation 104
HCV NS5A-binding protein 37
Gene names
Name:FNDC3B
Synonyms:FAD104, NS5ABP37
ORF Names:UNQ2421/PRO4979/PRO34274
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1204 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be a positive regulator of adipogenesis. Ref.1

Subcellular location

Membrane; Single-pass membrane protein By similarity.

Tissue specificity

Predominantly expressed in white adipose tissue (WAT) especially in the stromal vascular cells. Expressed in adipocyte differentiable 3T3-L1 cells but not in the non-adipogenic cell line NIH-3T3. Expression increased in the early stage of adipogenesis. Ref.1

Sequence similarities

Belongs to the FNDC3 family.

Contains 9 fibronectin type-III domains.

Sequence caution

The sequence AAH12204.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAH33635.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAQ88513.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAQ88733.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB15639.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAC11480.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processpositive regulation of fat cell differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionpoly(A) RNA binding

Inferred from direct assay PubMed 22658674. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q53EP0-1)

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: Q53EP0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     618-629: ANQWEVAYSGSA → GEVFGNCFIQIQ
     630-1204: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q53EP0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     63-71: GPAEVPMMS → DEVVKRACD
     72-1204: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12041204Fibronectin type III domain-containing protein 3B
PRO_0000284891

Regions

Transmembrane1182 – 120221Helical; Potential
Domain278 – 377100Fibronectin type-III 1
Domain381 – 47393Fibronectin type-III 2
Domain477 – 57094Fibronectin type-III 3
Domain574 – 66996Fibronectin type-III 4
Domain673 – 76593Fibronectin type-III 5
Domain766 – 85994Fibronectin type-III 6
Domain871 – 95787Fibronectin type-III 7
Domain958 – 105295Fibronectin type-III 8
Domain1056 – 115398Fibronectin type-III 9
Compositional bias231 – 24313Poly-Gly

Amino acid modifications

Modified residue2081Phosphoserine Ref.10
Modified residue11631Phosphoserine Ref.10

Natural variations

Alternative sequence63 – 719GPAEVPMMS → DEVVKRACD in isoform 3.
VSP_024739
Alternative sequence72 – 12041133Missing in isoform 3.
VSP_024740
Alternative sequence618 – 62912ANQWE…YSGSA → GEVFGNCFIQIQ in isoform 2.
VSP_024741
Alternative sequence630 – 1204575Missing in isoform 2.
VSP_024742
Natural variant1791T → S. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs7652177 [ dbSNP | Ensembl ].
VAR_031856
Natural variant9271P → S in a breast cancer sample; somatic mutation. Ref.12
VAR_035921
Natural variant10801M → V.
Corresponds to variant rs2276806 [ dbSNP | Ensembl ].
VAR_047814

Experimental info

Sequence conflict371Q → H in AAQ88733. Ref.2
Sequence conflict2081S → R in BAC53727. Ref.1
Sequence conflict2121S → A in BAC53727. Ref.1
Sequence conflict3601N → D in BAG37083. Ref.3
Sequence conflict3931S → G in BAG37083. Ref.3
Sequence conflict4481T → A in BAG37083. Ref.3
Sequence conflict4811P → L in AAQ88513. Ref.2
Sequence conflict5451K → T in BAC53727. Ref.1
Sequence conflict6761P → S in BAD97319. Ref.4
Sequence conflict8541C → W in AAH39297. Ref.6
Sequence conflict8951N → D in BAC11480. Ref.3
Sequence conflict10671G → V in AAQ88513. Ref.2
Sequence conflict10831D → G in BAG37083. Ref.3

Sequences

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

Last modified May 1, 2007. Version 2.
Checksum: 7E883F4566276CE7

FASTA1,204132,888
        10         20         30         40         50         60 
MYVTMMMTDQ IPLELPPLLN GEVAMMPHLV NGDAAQQVIL VQVNPGETFT IRAEDGTLQC 

        70         80         90        100        110        120 
IQGPAEVPMM SPNGSIPPIH VPPGYISQVI EDSTGVRRVV VTPQSPECYP PSYPSAMSPT 

       130        140        150        160        170        180 
HHLPPYLTHH PHFIHNSHTA YYPPVTGPGD MPPQFFPQHH LPHTIYGEQE IIPFYGMSTY 

       190        200        210        220        230        240 
ITREDQYSKP PHKKLKDRQI DRQNRLNSPP SSIYKSSCTT VYNGYGKGHS GGSGGGGSGS 

       250        260        270        280        290        300 
GPGIKKTERR ARSSPKSNDS DLQEYELEVK RVQDILSGIE KPQVSNIQAR AVVLSWAPPV 

       310        320        330        340        350        360 
GLSCGPHSGL SFPYSYEVAL SDKGRDGKYK IIYSGEELEC NLKDLRPATD YHVRVYAMYN 

       370        380        390        400        410        420 
SVKGSCSEPV SFTTHSCAPE CPFPPKLAHR SKSSLTLQWK APIDNGSKIT NYLLEWDEGK 

       430        440        450        460        470        480 
RNSGFRQCFF GSQKHCKLTK LCPAMGYTFR LAARNDIGTS GYSQEVVCYT LGNIPQMPSA 

       490        500        510        520        530        540 
PRLVRAGITW VTLQWSKPEG CSPEEVITYT LEIQEDENDN LFHPKYTGED LTCTVKNLKR 

       550        560        570        580        590        600 
STQYKFRLTA SNTEGKSCPS EVLVCTTSPD RPGPPTRPLV KGPVTSHGFS VKWDPPKDNG 

       610        620        630        640        650        660 
GSEILKYLLE ITDGNSEANQ WEVAYSGSAT EYTFTHLKPG TLYKLRACCI STGGHSQCSE 

       670        680        690        700        710        720 
SLPVRTLSIA PGQCRPPRVL GRPKHKEVHL EWDVPASESG CEVSEYSVEM TEPEDVASEV 

       730        740        750        760        770        780 
YHGPELECTV GNLLPGTVYR FRVRALNDGG YGPYSDVSEI TTAAGPPGQC KAPCISCTPD 

       790        800        810        820        830        840 
GCVLVGWESP DSSGADISEY RLEWGEDEES LELIYHGTDT RFEIRDLLPA AQYCCRLQAF 

       850        860        870        880        890        900 
NQAGAGPYSE LVLCQTPASA PDPVSTLCVL EEEPLDAYPD SPSACLVLNW EEPCNNGSEI 

       910        920        930        940        950        960 
LAYTIDLGDT SITVGNTTMH VMKDLLPETT YRIRIQAINE IGAGPFSQFI KAKTRPLPPL 

       970        980        990       1000       1010       1020 
PPRLECAAAG PQSLKLKWGD SNSKTHAAED IVYTLQLEDR NKRFISIYRG PSHTYKVQRL 

      1030       1040       1050       1060       1070       1080 
TEFTCYSFRI QAASEAGEGP FSETYTFSTT KSVPPTIKAP RVTQLEGNSC EILWETVPSM 

      1090       1100       1110       1120       1130       1140 
KGDPVNYILQ VLVGRESEYK QVYKGEEATF QISGLQTNTD YRFRVCACRR CLDTSQELSG 

      1150       1160       1170       1180       1190       1200 
AFSPSAAFVL QRSEVMLTGD MGSLDDPKMK SMMPTDEQFA AIIVLGFATL SILFAFILQY 


FLMK 

« Hide

Isoform 2 [UniParc].

Checksum: 86EC7CCBCD47B7B3
Show »

FASTA62969,572
Isoform 3 [UniParc].

Checksum: 99DC350E3B6A3AC2
Show »

FASTA717,844

References

« Hide 'large scale' references
[1]"Fad24, a mammalian homolog of Noc3p, is a positive regulator in adipocyte differentiation."
Tominaga K., Johmura Y., Nishizuka M., Imagawa M.
J. Cell Sci. 117:6217-6226(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, FUNCTION, VARIANT SER-179.
Tissue: Carcinoma.
[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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 320-1204 (ISOFORM 1), VARIANT SER-179.
[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] (ISOFORM 1), VARIANT SER-179.
Tissue: Placenta and Trachea.
[4]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Kidney.
[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], VARIANT SER-179.
[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] (ISOFORMS 1 AND 3), VARIANT SER-179.
Tissue: Lung, Skin and Testis.
[7]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 403-1204 (ISOFORM 1).
Tissue: Placenta.
[8]Wang L., Li K., Cheng J.
Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 710-1204 (ISOFORM 1).
[9]"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] OF 728-1204 (ISOFORM 1).
Tissue: Melanoma.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-208 AND SER-1163, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"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] SER-927.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB098597 mRNA. Translation: BAC53727.1.
AY358146 mRNA. Translation: AAQ88513.1. Different initiation.
AY358367 mRNA. Translation: AAQ88733.1. Different initiation.
AK027052 mRNA. Translation: BAB15639.1. Different initiation.
AK075220 mRNA. Translation: BAC11480.1. Different initiation.
AK127826 mRNA. Translation: BAG54580.1.
AK314478 mRNA. Translation: BAG37083.1.
AK223599 mRNA. Translation: BAD97319.1.
CH471052 Genomic DNA. Translation: EAW78476.1.
CH471052 Genomic DNA. Translation: EAW78472.1.
CH471052 Genomic DNA. Translation: EAW78474.1.
CH471052 Genomic DNA. Translation: EAW78475.1.
BC012204 mRNA. Translation: AAH12204.1. Different initiation.
BC033635 mRNA. Translation: AAH33635.1. Different initiation.
BC039297 mRNA. Translation: AAH39297.1.
AF543840 mRNA. Translation: AAN65261.1.
AL157482 mRNA. Translation: CAB75672.1.
PIRT46917.
RefSeqNP_001128567.1. NM_001135095.1.
NP_073600.3. NM_022763.3.
UniGeneHs.744888.

3D structure databases

ProteinModelPortalQ53EP0.
SMRQ53EP0. Positions 268-1133.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122288. 2 interactions.
IntActQ53EP0. 8 interactions.

PTM databases

PhosphoSiteQ53EP0.

Polymorphism databases

DMDM146286181.

Proteomic databases

PaxDbQ53EP0.
PRIDEQ53EP0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000336824; ENSP00000338523; ENSG00000075420. [Q53EP0-1]
ENST00000415807; ENSP00000411242; ENSG00000075420. [Q53EP0-1]
ENST00000416957; ENSP00000389094; ENSG00000075420. [Q53EP0-1]
ENST00000421757; ENSP00000408496; ENSG00000075420. [Q53EP0-3]
ENST00000423424; ENSP00000392471; ENSG00000075420. [Q53EP0-3]
GeneID64778.
KEGGhsa:64778.
UCSCuc003fhy.3. human. [Q53EP0-1]
uc003fia.3. human. [Q53EP0-2]

Organism-specific databases

CTD64778.
GeneCardsGC03P171757.
H-InvDBHIX0003861.
HGNCHGNC:24670. FNDC3B.
HPAHPA007859.
MIM611909. gene.
neXtProtNX_Q53EP0.
PharmGKBPA134936830.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOVERGENHBG100680.
InParanoidQ53EP0.
OMAITREDQY.
OrthoDBEOG7F7W8B.
PhylomeDBQ53EP0.
TreeFamTF316401.

Gene expression databases

ArrayExpressQ53EP0.
BgeeQ53EP0.
GenevestigatorQ53EP0.

Family and domain databases

Gene3D2.60.40.10. 9 hits.
InterProIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
[Graphical view]
PfamPF00041. fn3. 9 hits.
[Graphical view]
SMARTSM00060. FN3. 9 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 5 hits.
PROSITEPS50853. FN3. 9 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFNDC3B. human.
GenomeRNAi64778.
NextBio66802.
PROQ53EP0.
SOURCESearch...

Entry information

Entry nameFND3B_HUMAN
AccessionPrimary (citable) accession number: Q53EP0
Secondary accession number(s): B2RB36 expand/collapse secondary AC list , B3KXR8, D3DNQ7, Q5U5T8, Q6PIJ3, Q6UXG1, Q6UXZ5, Q8IXB2, Q8NBU7, Q96D78, Q9H5I7, Q9NSQ8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 1, 2007
Last sequence update: May 1, 2007
Last modified: April 16, 2014
This is version 80 of the entry and version 2 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