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Q7Z6L1 (TCPR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. 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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tectonin beta-propeller repeat-containing protein 1
Gene names
Name:TECPR1
Synonyms:KIAA1358
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1165 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns3P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation. Ref.9 Ref.10

Subunit structure

Interacts with ATG5; the interaction is direct. Interacts with WIPI2. Interacts with the ATG5-ATG12 conjugate, the interaction is however mutually exclusive with ATG16, since it does not interact with ATG12-ATG5-ATG16 complex. Ref.9 Ref.10

Subcellular location

Cytoplasmic vesicleautophagosome membrane. Lysosome membrane. Note: Localizes to Lysosome membranes, and binds PtdIns3P at the surface of autophagosome. Localizes to autolysosomes, a vesicle formed by the fusion between autophagosomes and lysosomes. Ref.9 Ref.10

Domain

The PH domain mediates the binding to phosphatidylinositol-3-phosphate (PtdIns3P). While full-length protein is unable to bind PtdIns3P in vitro, it is assumed that the binding to the ATG5-ATG12 conjugate exposes the PH domain, allowing the association with PtdIns3P (Ref.10).

Sequence similarities

Belongs to the TECPR1 family.

Contains 1 PH domain.

Contains 9 TECPR repeats.

Binary interactions

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z6L1-1)

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: Q7Z6L1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     557-557: A → AG
Note: No experimental confirmation available.
Isoform 3 (identifier: Q7Z6L1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.
     219-219: K → KVLCPCLASQ
     838-1165: RGLPTDRYMW...PPEAHGPVCC → SRDRISPCW
Note: No experimental confirmation available.
Isoform 4 (identifier: Q7Z6L1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     556-556: Q → QA
     836-836: T → TS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11651165Tectonin beta-propeller repeat-containing protein 1
PRO_0000337060

Regions

Repeat209 – 24032TECPR 1
Repeat254 – 28532TECPR 2
Repeat301 – 33232TECPR 3
Repeat344 – 37633TECPR 4
Domain611 – 717107PH
Repeat729 – 75628TECPR 5
Repeat953 – 98432TECPR 6
Repeat998 – 102932TECPR 7
Repeat1044 – 107532TECPR 8
Repeat1087 – 112741TECPR 9
Compositional bias384 – 3918Poly-Ser

Amino acid modifications

Modified residue9381Phosphoserine Ref.8
Modified residue9491Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 7979Missing in isoform 3.
VSP_042969
Alternative sequence2191K → KVLCPCLASQ in isoform 3.
VSP_042970
Alternative sequence5561Q → QA in isoform 4.
VSP_042971
Alternative sequence5571A → AG in isoform 2.
VSP_033861
Alternative sequence8361T → TS in isoform 4.
VSP_042972
Alternative sequence838 – 1165328RGLPT…GPVCC → SRDRISPCW in isoform 3.
VSP_042973
Natural variant7331S → Y.
Corresponds to variant rs35623371 [ dbSNP | Ensembl ].
VAR_060190
Natural variant9441P → L.
Corresponds to variant rs11762014 [ dbSNP | Ensembl ].
VAR_062238

Experimental info

Sequence conflict1161W → R in BAF85685. Ref.1
Sequence conflict1511D → Y in BAG51853. Ref.1
Sequence conflict4641A → T in BAF85685. Ref.1
Sequence conflict7461S → T in CAB55961. Ref.7
Sequence conflict9531I → T in BAF85685. Ref.1
Sequence conflict9881P → L in CAB55961. Ref.7

Sequences

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

Last modified October 1, 2003. Version 1.
Checksum: D396F4128710062D

FASTA1,165129,696
        10         20         30         40         50         60 
MPNSVLWAVD LFGRVYTLST AGQYWEMCKD SQLEFKRVSA TTQCCWGIAC DNQVYVYVCA 

        70         80         90        100        110        120 
SDVPIRRREE AYENQRWNPM GGFCEKLLLS DRWGWSDVSG LQHRPLDRVA LPSPHWEWES 

       130        140        150        160        170        180 
DWYVDENFGG EPTEKGGWTY AIDFPATYTK DKKWNSCVRR RKWIRYRRYK SRDIWAKIPS 

       190        200        210        220        230        240 
KDDPKELPDP FNDLSVGGWE ITEEPVGRLS VWAVSLQGKV WYREDVSHSN PEGSSWSLLD 

       250        260        270        280        290        300 
TPGEVVQISC GPHDLLWATL WEGQALVREG INRSNPKGSS WSIVEPPGSE NGVMHISVGV 

       310        320        330        340        350        360 
SVVWAVTKDW KVWFRRGVNS HNPCGTSWIE MVGEMTMVNV GMNDQVWGIG CEDRAVYFRQ 

       370        380        390        400        410        420 
GVTPSELSGK TWKAIIAARE CDRSHSGSSS SLLSAGCFFG DEVRGSGESA PSDTDASSEV 

       430        440        450        460        470        480 
ERPGPGQILP AEPLDDSKNA TGNSASGLGA GRTAEDTVED ACPAEGSREA RPNTHPGPAP 

       490        500        510        520        530        540 
TPAELPWTNI DLKEAKKVPS HSAAGFPETT SLSSLGLLPL GLEEPYGVDD HPLWAWVSGG 

       550        560        570        580        590        600 
GCVVEACAMP RWFTVQAGLS SSVHMLSLSI TPAQTAAWRK QIFQQLTERT KRELENFRHY 

       610        620        630        640        650        660 
EQAVEQSVWV KTGALQWWCD WKPHKWVDVR LALEQFTGHD GVRDSILFIY YVVHEEKKYI 

       670        680        690        700        710        720 
HIFLNEVVAL VPVLNETKHS FALYTPERTR QRWPVRLAAA TEQDMNDWLA LLSLSCCESR 

       730        740        750        760        770        780 
KVQGRPSPQA IWSITCKGDI FVSEPSPDLE AHEHPLPCDQ MFWRQMGGHL RMVEANSRGV 

       790        800        810        820        830        840 
VWGIGYDHTA WVYTGGYGGG CFQGLASSTS NIYTQSDVKC VHIYENQRWN PVTGYTSRGL 

       850        860        870        880        890        900 
PTDRYMWSDA SGLQECTKAG TKPPSLQWAW VSDWFVDFSV PGGTDQEGWQ YASDFPASYH 

       910        920        930        940        950        960 
GSKTMKDFVR RRCWARKCKL VTSGPWLEVP PIALRDVSII PESPGAEGSG HSIALWAVSD 

       970        980        990       1000       1010       1020 
KGDVLCRLGV SELNPAGSSW LHVGTDQPFA SISIGACYQV WAVARDGSAF YRGSVYPSQP 

      1030       1040       1050       1060       1070       1080 
AGDCWYHIPS PPRQRLKQVS AGQTSVYALD ENGNLWYRQG ITPSYPQGSS WEHVSNNVCR 

      1090       1100       1110       1120       1130       1140 
VSVGPLDQVW VIANKVQGSH SLSRGTVCHR TGVQPHEPKG HGWDYGIGGG WDHISVRANA 

      1150       1160 
TRAPRSSSQE QEPSAPPEAH GPVCC 

« Hide

Isoform 2 [UniParc].

Checksum: 514CB3EE46C887D6
Show »

FASTA1,166129,753
Isoform 3 [UniParc].

Checksum: CCBCAB81F92A970A
Show »

FASTA77686,697
Isoform 4 [UniParc].

Checksum: 5E69B7980D8A5297
Show »

FASTA1,167129,854

References

« Hide 'large scale' references
[1]"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 3).
Tissue: Trachea.
[2]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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].
[5]"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).
Tissue: Eye and Placenta.
[6]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-1165 (ISOFORM 1).
Tissue: Brain.
[7]"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 418-1165 (ISOFORM 2).
Tissue: Testis.
[8]"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-938 AND SER-949, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"A Tecpr1-dependent selective autophagy pathway targets bacterial pathogens."
Ogawa M., Yoshikawa Y., Kobayashi T., Mimuro H., Fukumatsu M., Kiga K., Piao Z., Ashida H., Yoshida M., Kakuta S., Koyama T., Goto Y., Nagatake T., Nagai S., Kiyono H., Kawalec M., Reichhart J.M., Sasakawa C.
Cell Host Microbe 9:376-389(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, ASSOCIATION WITH THE ATG5-ATG12 CONJUGATE, INTERACTION WITH ATG5 AND WIPI2.
[10]"A mammalian autophagosome maturation mechanism mediated by TECPR1 and the Atg12-Atg5 conjugate."
Chen D., Fan W., Lu Y., Ding X., Chen S., Zhong Q.
Mol. Cell 45:629-641(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, ASSOCIATION WITH THE ATG5-ATG12 CONJUGATE, INTERACTION WITH ATG5, PTDINS(3)P-BINDING.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK057048 mRNA. Translation: BAG51853.1.
AK292996 mRNA. Translation: BAF85685.1.
AC091654 Genomic DNA. No translation available.
CH236956 Genomic DNA. Translation: EAL23891.1.
CH471091 Genomic DNA. Translation: EAW76717.1.
BC012529 mRNA. Translation: AAH12529.2.
BC053591 mRNA. Translation: AAH53591.1.
AB037779 mRNA. Translation: BAA92596.1.
AL117495 mRNA. Translation: CAB55961.2.
PIRT17271.
RefSeqNP_056210.1. NM_015395.2.
XP_005250310.1. XM_005250253.2.
UniGeneHs.592281.

3D structure databases

ProteinModelPortalQ7Z6L1.
SMRQ7Z6L1. Positions 64-173, 820-923.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117375. 9 interactions.
IntActQ7Z6L1. 11 interactions.
STRING9606.ENSP00000404923.

PTM databases

PhosphoSiteQ7Z6L1.

Polymorphism databases

DMDM74738829.

Proteomic databases

PaxDbQ7Z6L1.
PRIDEQ7Z6L1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000379795; ENSP00000369121; ENSG00000205356. [Q7Z6L1-4]
ENST00000447648; ENSP00000404923; ENSG00000205356. [Q7Z6L1-1]
ENST00000542604; ENSP00000441121; ENSG00000205356. [Q7Z6L1-3]
GeneID25851.
KEGGhsa:25851.
UCSCuc003upg.4. human. [Q7Z6L1-1]
uc003uph.2. human. [Q7Z6L1-3]

Organism-specific databases

CTD25851.
GeneCardsGC07M097843.
H-InvDBHIX0006878.
HGNCHGNC:22214. TECPR1.
HPAHPA021061.
MIM614781. gene.
neXtProtNX_Q7Z6L1.
PharmGKBPA164726436.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG328700.
HOGENOMHOG000007892.
InParanoidQ7Z6L1.
KOK17988.
OMAQYASDFP.
OrthoDBEOG7HXCQ5.
PhylomeDBQ7Z6L1.
TreeFamTF323648.

Gene expression databases

ArrayExpressQ7Z6L1.
BgeeQ7Z6L1.
GenevestigatorQ7Z6L1.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
InterProIPR006624. Beta-propeller_rpt_TECPR.
IPR010482. Peroxin/Dysferlin.
IPR006614. Peroxin/Ferlin.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
[Graphical view]
PfamPF06462. Hyd_WA. 8 hits.
PF06398. Pex24p. 2 hits.
[Graphical view]
SMARTSM00694. DysFC. 2 hits.
SM00693. DysFN. 2 hits.
SM00233. PH. 1 hit.
SM00706. TECPR. 11 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi25851.
NextBio47193.
PROQ7Z6L1.
SOURCESearch...

Entry information

Entry nameTCPR1_HUMAN
AccessionPrimary (citable) accession number: Q7Z6L1
Secondary accession number(s): A8KAD1 expand/collapse secondary AC list , B3KPZ1, C9J024, F5GX57, Q96EB0, Q9P2I9, Q9UFR6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: October 1, 2003
Last modified: April 16, 2014
This is version 90 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 7

Human chromosome 7: entries, gene names and cross-references to MIM