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Q13243

- SRSF5_HUMAN

UniProt

Q13243 - SRSF5_HUMAN

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Protein

Serine/arginine-rich splicing factor 5

Gene

SRSF5

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

Functioni

Plays a role in constitutive splicing and can modulate the selection of alternative splice sites.

GO - Molecular functioni

  1. nucleotide binding Source: InterPro
  2. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. gene expression Source: Reactome
  2. mRNA 3'-end processing Source: Reactome
  3. mRNA export from nucleus Source: Reactome
  4. mRNA processing Source: ProtInc
  5. mRNA splice site selection Source: ProtInc
  6. mRNA splicing, via spliceosome Source: Reactome
  7. regulation of cell cycle Source: Ensembl
  8. response to wounding Source: Ensembl
  9. RNA splicing Source: Reactome
  10. termination of RNA polymerase II transcription Source: Reactome
  11. transcription from RNA polymerase II promoter Source: Reactome
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

ReactomeiREACT_1597. Transport of Mature mRNA derived from an Intron-Containing Transcript.
REACT_1849. mRNA 3'-end processing.
REACT_467. mRNA Splicing - Major Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine/arginine-rich splicing factor 5
Alternative name(s):
Delayed-early protein HRS
Pre-mRNA-splicing factor SRP40
Splicing factor, arginine/serine-rich 5
Gene namesi
Name:SRSF5
Synonyms:HRS, SFRS5, SRP40
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:10787. SRSF5.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nuclear speck Source: UniProtKB
  3. nucleolus Source: HPA
  4. nucleoplasm Source: Reactome
  5. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35703.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 272272Serine/arginine-rich splicing factor 5PRO_0000081927Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei167 – 1671N6-acetyllysine1 Publication
Modified residuei227 – 2271Phosphoserine1 Publication
Modified residuei229 – 2291Phosphoserine1 Publication
Modified residuei233 – 2331Phosphoserine1 Publication
Modified residuei250 – 2501Phosphoserine2 Publications
Modified residuei253 – 2531Phosphoserine2 Publications

Post-translational modificationi

Extensively phosphorylated on serine residues in the RS domain.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ13243.
PaxDbiQ13243.
PRIDEiQ13243.

PTM databases

PhosphoSiteiQ13243.

Expressioni

Gene expression databases

BgeeiQ13243.
CleanExiHS_SFRS5.
ExpressionAtlasiQ13243. baseline and differential.
GenevestigatoriQ13243.

Organism-specific databases

HPAiHPA043484.
HPA056523.

Interactioni

Subunit structurei

Interacts (via RS domain) with PHF5A (via N-terminus) (By similarity). Found in a pre-mRNA splicing complex with SRSF4/SFRS4, SRSF5/SFRS5, SNRNP70, SNRPA1, SRRM1 and SRRM2.By similarity1 Publication

Protein-protein interaction databases

BioGridi112328. 98 interactions.
DIPiDIP-46894N.
IntActiQ13243. 24 interactions.
MINTiMINT-1400587.

Structurei

3D structure databases

ProteinModelPortaliQ13243.
SMRiQ13243. Positions 4-176.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 7471RRM 1PROSITE-ProRule annotationAdd
BLAST
Domaini108 – 18174RRM 2PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi78 – 836Gly-rich (hinge region)
Compositional biasi182 – 26786Arg/Ser-rich (RS domain)Add
BLAST

Sequence similaritiesi

Belongs to the splicing factor SR family.Curated
Contains 2 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG0724.
GeneTreeiENSGT00700000104103.
HOVERGENiHBG002295.
InParanoidiQ13243.
KOiK12893.
OMAiIIVELAM.
OrthoDBiEOG7H1JPR.
PhylomeDBiQ13243.
TreeFamiTF351335.

Family and domain databases

Gene3Di3.30.70.330. 2 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF00076. RRM_1. 2 hits.
[Graphical view]
SMARTiSM00360. RRM. 2 hits.
[Graphical view]
PROSITEiPS50102. RRM. 2 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform SRP40-1 (identifier: Q13243-1) [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
MSGCRVFIGR LNPAAREKDV ERFFKGYGRI RDIDLKRGFG FVEFEDPRDA
60 70 80 90 100
DDAVYELDGK ELCSERVTIE HARARSRGGR GRGRYSDRFS SRRPRNDRRN
110 120 130 140 150
APPVRTENRL IVENLSSRVS WQDLKDFMRQ AGEVTFADAH RPKLNEGVVE
160 170 180 190 200
FASYGDLKNA IEKLSGKEIN GRKIKLIEGS KRHSRSRSRS RSRTRSSSRS
210 220 230 240 250
RSRSRSRSRK SYSRSRSRSR SRSRSKSRSV SRSPVPEKSQ KRGSSSRSKS
260 270
PASVDRQRSR SRSRSRSVDS GN
Length:272
Mass (Da):31,264
Last modified:November 1, 1996 - v1
Checksum:iF13AD79845ECBB16
GO
Isoform SRP40-2 (identifier: Q13243-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     100-107: NAPPVRTE → YVKGGWLH
     108-272: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:107
Mass (Da):12,528
Checksum:i131B3E530F96F528
GO
Isoform SRP40-3 (identifier: Q13243-4)

Sequence is not available
Length:
Mass (Da):
Isoform SRP40-4 (identifier: Q13243-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-45: Missing.

Note: No experimental confirmation available.

Show »
Length:269
Mass (Da):30,858
Checksum:iEB51CB5B0F51BD78
GO

Sequence cautioni

The sequence AAC39543.1 differs from that shown. Reason: Frameshift at positions 113 and 140.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601A → S.
Corresponds to variant rs1057683 [ dbSNP | Ensembl ].
VAR_014713

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei43 – 453Missing in isoform SRP40-4. CuratedVSP_005863
Alternative sequencei100 – 1078NAPPVRTE → YVKGGWLH in isoform SRP40-2. 5 PublicationsVSP_005864
Alternative sequencei108 – 272165Missing in isoform SRP40-2. 5 PublicationsVSP_005865Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U30826 mRNA. Translation: AAA93070.1.
U30884 mRNA. Translation: AAA93074.1.
U30827 mRNA. Translation: AAB60405.1.
BT007089 mRNA. Translation: AAP35752.1.
AK311805 mRNA. Translation: BAG34748.1.
CR542167 mRNA. Translation: CAG46964.1.
CR542182 mRNA. Translation: CAG46979.1.
BX640605 mRNA. Translation: CAE45711.1.
AB451250 mRNA. Translation: BAG70064.1.
BC018823 mRNA. Translation: AAH18823.1.
BC040209 mRNA. Translation: AAH40209.1.
AF020307 Genomic DNA. Translation: AAC39543.1. Frameshift.
CCDSiCCDS32109.1. [Q13243-1]
PIRiS59042.
RefSeqiNP_001034554.1. NM_001039465.1. [Q13243-1]
NP_008856.2. NM_006925.3. [Q13243-1]
XP_005268055.1. XM_005267998.1. [Q13243-1]
UniGeneiHs.632326.

Genome annotation databases

EnsembliENST00000394366; ENSP00000377892; ENSG00000100650. [Q13243-1]
ENST00000553521; ENSP00000452123; ENSG00000100650. [Q13243-1]
ENST00000553635; ENSP00000451391; ENSG00000100650. [Q13243-3]
ENST00000557154; ENSP00000451088; ENSG00000100650. [Q13243-1]
GeneIDi6430.
KEGGihsa:6430.
UCSCiuc001xll.3. human. [Q13243-1]
uc001xln.1. human. [Q13243-2]

Polymorphism databases

DMDMi3929378.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U30826 mRNA. Translation: AAA93070.1 .
U30884 mRNA. Translation: AAA93074.1 .
U30827 mRNA. Translation: AAB60405.1 .
BT007089 mRNA. Translation: AAP35752.1 .
AK311805 mRNA. Translation: BAG34748.1 .
CR542167 mRNA. Translation: CAG46964.1 .
CR542182 mRNA. Translation: CAG46979.1 .
BX640605 mRNA. Translation: CAE45711.1 .
AB451250 mRNA. Translation: BAG70064.1 .
BC018823 mRNA. Translation: AAH18823.1 .
BC040209 mRNA. Translation: AAH40209.1 .
AF020307 Genomic DNA. Translation: AAC39543.1 . Frameshift.
CCDSi CCDS32109.1. [Q13243-1 ]
PIRi S59042.
RefSeqi NP_001034554.1. NM_001039465.1. [Q13243-1 ]
NP_008856.2. NM_006925.3. [Q13243-1 ]
XP_005268055.1. XM_005267998.1. [Q13243-1 ]
UniGenei Hs.632326.

3D structure databases

ProteinModelPortali Q13243.
SMRi Q13243. Positions 4-176.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112328. 98 interactions.
DIPi DIP-46894N.
IntActi Q13243. 24 interactions.
MINTi MINT-1400587.

PTM databases

PhosphoSitei Q13243.

Polymorphism databases

DMDMi 3929378.

Proteomic databases

MaxQBi Q13243.
PaxDbi Q13243.
PRIDEi Q13243.

Protocols and materials databases

DNASUi 6430.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000394366 ; ENSP00000377892 ; ENSG00000100650 . [Q13243-1 ]
ENST00000553521 ; ENSP00000452123 ; ENSG00000100650 . [Q13243-1 ]
ENST00000553635 ; ENSP00000451391 ; ENSG00000100650 . [Q13243-3 ]
ENST00000557154 ; ENSP00000451088 ; ENSG00000100650 . [Q13243-1 ]
GeneIDi 6430.
KEGGi hsa:6430.
UCSCi uc001xll.3. human. [Q13243-1 ]
uc001xln.1. human. [Q13243-2 ]

Organism-specific databases

CTDi 6430.
GeneCardsi GC14P070234.
HGNCi HGNC:10787. SRSF5.
HPAi HPA043484.
HPA056523.
MIMi 600914. gene.
neXtProti NX_Q13243.
PharmGKBi PA35703.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0724.
GeneTreei ENSGT00700000104103.
HOVERGENi HBG002295.
InParanoidi Q13243.
KOi K12893.
OMAi IIVELAM.
OrthoDBi EOG7H1JPR.
PhylomeDBi Q13243.
TreeFami TF351335.

Enzyme and pathway databases

Reactomei REACT_1597. Transport of Mature mRNA derived from an Intron-Containing Transcript.
REACT_1849. mRNA 3'-end processing.
REACT_467. mRNA Splicing - Major Pathway.

Miscellaneous databases

ChiTaRSi SRSF5. human.
GeneWikii SFRS5.
GenomeRNAii 6430.
NextBioi 24973.
PROi Q13243.
SOURCEi Search...

Gene expression databases

Bgeei Q13243.
CleanExi HS_SFRS5.
ExpressionAtlasi Q13243. baseline and differential.
Genevestigatori Q13243.

Family and domain databases

Gene3Di 3.30.70.330. 2 hits.
InterProi IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view ]
Pfami PF00076. RRM_1. 2 hits.
[Graphical view ]
SMARTi SM00360. RRM. 2 hits.
[Graphical view ]
PROSITEi PS50102. RRM. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of three members of the human SR family of pre-mRNA splicing factors."
    Screaton G.R., Caceres J.F., Mayeda A., Bell M.V., Plebanski M., Jackson D.G., Bell J.I., Krainer A.R.
    EMBO J. 14:4336-4349(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS SRP40-1 AND SRP40-2).
    Tissue: Colon.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SRP40-1).
  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] (ISOFORM SRP40-2).
    Tissue: Testis.
  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] (ISOFORM SRP40-2).
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SRP40-2).
    Tissue: Endometrial tumor.
  6. "Human protein factory for converting the transcriptome into an in vitro-expressed proteome."
    Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R., Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y., Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B.
    , Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H., Maruyama Y., Matsuo K., Minami K., Mitsubori M., Mori M., Morishita R., Murase A., Nishikawa A., Nishikawa S., Okamoto T., Sakagami N., Sakamoto Y., Sasaki Y., Seki T., Sono S., Sugiyama A., Sumiya T., Takayama T., Takayama Y., Takeda H., Togashi T., Yahata K., Yamada H., Yanagisawa Y., Endo Y., Imamoto F., Kisu Y., Tanaka S., Isogai T., Imai J., Watanabe S., Nomura N.
    Nat. Methods 5:1011-1017(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SRP40-2).
  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 SRP40-1).
    Tissue: Skin and Testis.
  8. "Alternative splicing and structure of the human and mouse SFRS5/HRS/SRp40 genes."
    Du K., Taub R.
    Gene 204:243-249(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-192, ALTERNATIVE SPLICING.
    Tissue: Thymus.
  9. "SR proteins: a conserved family of pre-mRNA splicing factors."
    Zahler A.M., Lane W.S., Stolk J.A., Roth M.B.
    Genes Dev. 6:837-847(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 130-158.
  10. Cited for: IDENTIFICATION IN A MRNA SPLICING COMPLEX WITH SRSF4; SNRNP70; SNRPA1; SRRM1 AND SRRM2.
  11. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
  12. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-250 AND SER-253, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-167, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-227; SER-229; SER-233; SER-250 AND SER-253, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSRSF5_HUMAN
AccessioniPrimary (citable) accession number: Q13243
Secondary accession number(s): O14797
, Q16662, Q49AD6, Q6FGE0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 152 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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