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P45378

- TNNT3_HUMAN

UniProt

P45378 - TNNT3_HUMAN

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Protein

Troponin T, fast skeletal muscle

Gene

TNNT3

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

Functioni

Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

GO - Molecular functioni

  1. calcium-dependent protein binding Source: UniProtKB
  2. tropomyosin binding Source: UniProtKB
  3. troponin C binding Source: UniProtKB
  4. troponin I binding Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. muscle filament sliding Source: Reactome
  3. regulation of ATPase activity Source: UniProtKB
  4. regulation of striated muscle contraction Source: UniProtKB
  5. skeletal muscle contraction Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Troponin T, fast skeletal muscle
Short name:
TnTf
Alternative name(s):
Beta-TnTF
Fast skeletal muscle troponin T
Short name:
fTnT
Gene namesi
Name:TNNT3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:11950. TNNT3.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. troponin complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741R → H in DA2B. 1 Publication
VAR_026453

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi601680. phenotype.
Orphaneti1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
PharmGKBiPA36639.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 269268Troponin T, fast skeletal musclePRO_0000186178Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineBy similarity
Modified residuei2 – 21Phosphoserine; by CK2By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP45378.
PRIDEiP45378.

PTM databases

PhosphoSiteiP45378.

Expressioni

Tissue specificityi

In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.

Gene expression databases

BgeeiP45378.
ExpressionAtlasiP45378. baseline.
GenevestigatoriP45378.

Organism-specific databases

HPAiCAB002451.
HPA037810.

Interactioni

Protein-protein interaction databases

BioGridi112994. 11 interactions.
IntActiP45378. 6 interactions.
MINTiMINT-1410650.

Structurei

3D structure databases

ProteinModelPortaliP45378.
SMRiP45378. Positions 164-253.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the troponin T family.Curated

Phylogenomic databases

eggNOGiNOG299534.
GeneTreeiENSGT00390000013611.
HOVERGENiHBG052790.
InParanoidiP45378.
KOiK12046.
OMAiAHHEEAH.
OrthoDBiEOG7W155J.
PhylomeDBiP45378.
TreeFamiTF313321.

Family and domain databases

InterProiIPR027707. TNNT.
IPR027708. Tnnt3.
IPR001978. Troponin.
[Graphical view]
PANTHERiPTHR11521. PTHR11521. 1 hit.
PTHR11521:SF4. PTHR11521:SF4. 1 hit.
PfamiPF00992. Troponin. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P45378-1) [UniParc]FASTAAdd to Basket

Also known as: Tnt1

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
MSDEEVEQVE EQYEEEEEAQ EEAAEVHEEV HEPEEVQEDT AEEDAEEEKP
60 70 80 90 100
RPKLTAPKIP EGEKVDFDDI QKKRQNKDLM ELQALIDSHF EARKKEEEEL
110 120 130 140 150
VALKERIEKR RAERAEQQRI RAEKERERQN RLAEEKARRE EEDAKRRAED
160 170 180 190 200
DLKKKKALSS MGANYSSYLA KADQKRGKKQ TAREMKKKIL AERRKPLNID
210 220 230 240 250
HLGEDKLRDK AKELWETLHQ LEIDKFEFGE KLKRQKYDIT TLRSRIDQAQ
260
KHSKKAGTPA KGKVGGRWK
Length:269
Mass (Da):31,825
Last modified:January 23, 2007 - v3
Checksum:i87B25AF8773D742F
GO
Isoform 2 (identifier: P45378-2) [UniParc]FASTAAdd to Basket

Also known as: Tnt3

The sequence of this isoform differs from the canonical sequence as follows:
     23-33: Missing.

Show »
Length:258
Mass (Da):30,596
Checksum:iF42BF2526BDC5ED9
GO
Isoform 3 (identifier: P45378-3) [UniParc]FASTAAdd to Basket

Also known as: Tnt1f

The sequence of this isoform differs from the canonical sequence as follows:
     39-46: Missing.

Show »
Length:261
Mass (Da):30,964
Checksum:i6D7AF5AF58952CD1
GO
Isoform 4 (identifier: P45378-4) [UniParc]FASTAAdd to Basket

Also known as: Tnt3f

The sequence of this isoform differs from the canonical sequence as follows:
     23-33: Missing.
     39-46: Missing.
     240-252: TTLRSRIDQAQKH → MNVRARVQMLAKF

Show »
Length:250
Mass (Da):29,746
Checksum:i3E60707FDA580499
GO
Isoform 5 (identifier: P45378-5) [UniParc]FASTAAdd to Basket

Also known as: Tnt3f*

The sequence of this isoform differs from the canonical sequence as follows:
     23-46: Missing.

Note: Minor isoform detected in approximately 1% of cDNA clones.

Show »
Length:245
Mass (Da):29,121
Checksum:i320B367968566805
GO
Isoform 6 (identifier: P45378-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-46: Missing.

Show »
Length:256
Mass (Da):30,349
Checksum:i9522A0CA453CB492
GO
Isoform 7 (identifier: P45378-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-33: Missing.
     39-46: Missing.

Show »
Length:250
Mass (Da):29,735
Checksum:i9A9651EBDF220547
GO

Sequence cautioni

The sequence AAH50446.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti149 – 1491E → G in CAE45814. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741R → H in DA2B. 1 Publication
VAR_026453

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei23 – 4624Missing in isoform 5. 1 PublicationVSP_009121Add
BLAST
Alternative sequencei23 – 3311Missing in isoform 2, isoform 4 and isoform 7. 5 PublicationsVSP_007914Add
BLAST
Alternative sequencei34 – 4613Missing in isoform 6. 4 PublicationsVSP_034964Add
BLAST
Alternative sequencei39 – 468Missing in isoform 3, isoform 4 and isoform 7. 4 PublicationsVSP_007915
Alternative sequencei240 – 25213TTLRS…QAQKH → MNVRARVQMLAKF in isoform 4. 2 PublicationsVSP_007916Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M21984 mRNA. Translation: AAA36777.1.
AF026276 Genomic DNA. Translation: AAF21629.1.
AK056968 mRNA. Translation: BAG51835.1.
DQ778624 mRNA. Translation: ABG77458.1.
BX640689 mRNA. Translation: CAE45814.1.
BT019997 mRNA. Translation: AAV38800.1.
CR541927 mRNA. Translation: CAG46725.1.
AC051649 Genomic DNA. No translation available.
BC050446 mRNA. Translation: AAH50446.1. Different initiation.
BC117327 mRNA. Translation: AAI17328.1.
BC171727 mRNA. Translation: AAI71727.1.
BC143537 mRNA. Translation: AAI43538.1.
U14641 mRNA. Translation: AAA50359.1.
U14642 mRNA. Translation: AAA50360.1.
U14643 mRNA. Translation: AAA50361.1.
U14644 mRNA. Translation: AAA50362.1.
CCDSiCCDS41594.1. [P45378-6]
CCDS41595.1. [P45378-4]
CCDS41596.1. [P45378-7]
CCDS7727.1. [P45378-2]
PIRiI53021.
S48660.
S74259.
S74260.
S74261.
RefSeqiNP_001036245.1. NM_001042780.2. [P45378-4]
NP_001036246.1. NM_001042781.2. [P45378-6]
NP_001036247.1. NM_001042782.2. [P45378-7]
NP_006748.1. NM_006757.3. [P45378-2]
XP_006718353.1. XM_006718290.1. [P45378-1]
XP_006718356.1. XM_006718293.1. [P45378-3]
XP_006718363.1. XM_006718300.1. [P45378-5]
UniGeneiHs.73454.

Genome annotation databases

EnsembliENST00000278317; ENSP00000278317; ENSG00000130595. [P45378-2]
ENST00000344578; ENSP00000344870; ENSG00000130595. [P45378-5]
ENST00000381558; ENSP00000370970; ENSG00000130595. [P45378-7]
ENST00000381563; ENSP00000370975; ENSG00000130595. [P45378-3]
ENST00000381579; ENSP00000370991; ENSG00000130595. [P45378-4]
ENST00000381589; ENSP00000371001; ENSG00000130595. [P45378-6]
ENST00000397301; ENSP00000380468; ENSG00000130595. [P45378-1]
GeneIDi7140.
KEGGihsa:7140.
UCSCiuc001luo.4. human. [P45378-4]
uc001lup.4. human. [P45378-6]
uc001luq.4. human. [P45378-7]
uc001luu.4. human. [P45378-2]
uc010qxg.2. human. [P45378-1]

Polymorphism databases

DMDMi33518637.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M21984 mRNA. Translation: AAA36777.1 .
AF026276 Genomic DNA. Translation: AAF21629.1 .
AK056968 mRNA. Translation: BAG51835.1 .
DQ778624 mRNA. Translation: ABG77458.1 .
BX640689 mRNA. Translation: CAE45814.1 .
BT019997 mRNA. Translation: AAV38800.1 .
CR541927 mRNA. Translation: CAG46725.1 .
AC051649 Genomic DNA. No translation available.
BC050446 mRNA. Translation: AAH50446.1 . Different initiation.
BC117327 mRNA. Translation: AAI17328.1 .
BC171727 mRNA. Translation: AAI71727.1 .
BC143537 mRNA. Translation: AAI43538.1 .
U14641 mRNA. Translation: AAA50359.1 .
U14642 mRNA. Translation: AAA50360.1 .
U14643 mRNA. Translation: AAA50361.1 .
U14644 mRNA. Translation: AAA50362.1 .
CCDSi CCDS41594.1. [P45378-6 ]
CCDS41595.1. [P45378-4 ]
CCDS41596.1. [P45378-7 ]
CCDS7727.1. [P45378-2 ]
PIRi I53021.
S48660.
S74259.
S74260.
S74261.
RefSeqi NP_001036245.1. NM_001042780.2. [P45378-4 ]
NP_001036246.1. NM_001042781.2. [P45378-6 ]
NP_001036247.1. NM_001042782.2. [P45378-7 ]
NP_006748.1. NM_006757.3. [P45378-2 ]
XP_006718353.1. XM_006718290.1. [P45378-1 ]
XP_006718356.1. XM_006718293.1. [P45378-3 ]
XP_006718363.1. XM_006718300.1. [P45378-5 ]
UniGenei Hs.73454.

3D structure databases

ProteinModelPortali P45378.
SMRi P45378. Positions 164-253.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112994. 11 interactions.
IntActi P45378. 6 interactions.
MINTi MINT-1410650.

PTM databases

PhosphoSitei P45378.

Polymorphism databases

DMDMi 33518637.

Proteomic databases

PaxDbi P45378.
PRIDEi P45378.

Protocols and materials databases

DNASUi 7140.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000278317 ; ENSP00000278317 ; ENSG00000130595 . [P45378-2 ]
ENST00000344578 ; ENSP00000344870 ; ENSG00000130595 . [P45378-5 ]
ENST00000381558 ; ENSP00000370970 ; ENSG00000130595 . [P45378-7 ]
ENST00000381563 ; ENSP00000370975 ; ENSG00000130595 . [P45378-3 ]
ENST00000381579 ; ENSP00000370991 ; ENSG00000130595 . [P45378-4 ]
ENST00000381589 ; ENSP00000371001 ; ENSG00000130595 . [P45378-6 ]
ENST00000397301 ; ENSP00000380468 ; ENSG00000130595 . [P45378-1 ]
GeneIDi 7140.
KEGGi hsa:7140.
UCSCi uc001luo.4. human. [P45378-4 ]
uc001lup.4. human. [P45378-6 ]
uc001luq.4. human. [P45378-7 ]
uc001luu.4. human. [P45378-2 ]
uc010qxg.2. human. [P45378-1 ]

Organism-specific databases

CTDi 7140.
GeneCardsi GC11P001940.
HGNCi HGNC:11950. TNNT3.
HPAi CAB002451.
HPA037810.
MIMi 600692. gene.
601680. phenotype.
neXtProti NX_P45378.
Orphaneti 1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
PharmGKBi PA36639.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG299534.
GeneTreei ENSGT00390000013611.
HOVERGENi HBG052790.
InParanoidi P45378.
KOi K12046.
OMAi AHHEEAH.
OrthoDBi EOG7W155J.
PhylomeDBi P45378.
TreeFami TF313321.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi TNNT3. human.
GeneWikii TNNT3.
GenomeRNAii 7140.
NextBioi 27943.
PROi P45378.
SOURCEi Search...

Gene expression databases

Bgeei P45378.
ExpressionAtlasi P45378. baseline.
Genevestigatori P45378.

Family and domain databases

InterProi IPR027707. TNNT.
IPR027708. Tnnt3.
IPR001978. Troponin.
[Graphical view ]
PANTHERi PTHR11521. PTHR11521. 1 hit.
PTHR11521:SF4. PTHR11521:SF4. 1 hit.
Pfami PF00992. Troponin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and characterization of human fast skeletal beta troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family."
    Wu Q.-L., Jha P.K., Raychowdhury M.K., Du Y., Leavis P.C., Sarkar S.
    DNA Cell Biol. 13:217-233(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Fetal skeletal muscle.
  2. "Genomic structure of the fast skeletal troponin T gene (TNNT3)."
    Stefancsik R., Mao C., Randall J., Jha P.K., Sarkar S.
    Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  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 7).
    Tissue: Skeletal muscle.
  4. Li H., Nong W., Zhou G., Ke R., Shen C., Liang M., Tang Z., Huang B., Lin L., Yang S.
    Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    Tissue: Liver.
  6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
  7. "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 (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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 4; 6 AND 7).
    Tissue: Lung.
  10. "Identification of a fetal exon in the human fast troponin T gene."
    Briggs M.M., Maready M., Schmidt J.M., Schachat F.
    FEBS Lett. 350:37-40(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-67 (ISOFORMS 1; 2; 3; 4 AND 5).
    Tissue: Skeletal muscle.
  11. "Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B."
    Sung S.S., Brassington A.-M.E., Krakowiak P.A., Carey J.C., Jorde L.B., Bamshad M.
    Am. J. Hum. Genet. 73:212-214(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DA2B HIS-74.

Entry informationi

Entry nameiTNNT3_HUMAN
AccessioniPrimary (citable) accession number: P45378
Secondary accession number(s): A8MQ76
, A8MSW1, B3KPX3, B7WP64, B7ZL26, B7ZVV9, Q12975, Q12976, Q12977, Q12978, Q17RG9, Q6FH29, Q6N056, Q86TH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 125 of the entry and version 3 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 11
    Human chromosome 11: 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