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UniProtKB - Q8NHQ1 (CEP70_HUMAN)

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Protein

Centrosomal protein of 70 kDa

Gene

CEP70

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

Functioni

Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle.

GO - Molecular functioni

  • gamma-tubulin binding Source: InterPro
  • identical protein binding Source: IntAct
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 70 kDa
Short name:
Cep70
Alternative name(s):
p10-binding protein
Gene namesi
Name:CEP70
Synonyms:BITE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000114107.8
HGNCiHGNC:29972 CEP70
MIMi614310 gene
neXtProtiNX_Q8NHQ1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi80321
OpenTargetsiENSG00000114107
PharmGKBiPA128394729

Polymorphism and mutation databases

BioMutaiCEP70
DMDMi84028943

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894971 – 597Centrosomal protein of 70 kDaAdd BLAST597

Proteomic databases

EPDiQ8NHQ1
PaxDbiQ8NHQ1
PeptideAtlasiQ8NHQ1
PRIDEiQ8NHQ1
ProteomicsDBi73734
73735 [Q8NHQ1-2]
73736 [Q8NHQ1-3]
73737 [Q8NHQ1-4]
73738 [Q8NHQ1-5]

PTM databases

iPTMnetiQ8NHQ1
PhosphoSitePlusiQ8NHQ1

Expressioni

Gene expression databases

BgeeiENSG00000114107
CleanExiHS_CEP70
ExpressionAtlasiQ8NHQ1 baseline and differential
GenevisibleiQ8NHQ1 HS

Organism-specific databases

HPAiHPA036941
HPA036942

Interactioni

Subunit structurei

Directly interacts with tubulin-gamma; this interaction determines centrosomal localization.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself4EBI-739624,EBI-739624
ABT1Q9ULW35EBI-739624,EBI-2602396
AIR1P405073EBI-739624,EBI-25083From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
AKAP17AQ020405EBI-739624,EBI-1042725
AKAP17AQ02040-33EBI-739624,EBI-10222656
APL6P466823EBI-739624,EBI-2213From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
ARHGEF3Q9NR815EBI-739624,EBI-10312733
ATP5OP480475EBI-739624,EBI-355815
BARD1A0AVN23EBI-739624,EBI-9977322
BARD1Q997283EBI-739624,EBI-473181
BEX2Q9BXY85EBI-739624,EBI-745073
BIT61P470413EBI-739624,EBI-25889From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
BOL3P397243EBI-739624,EBI-2343154From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
BRMS1Q9HCU93EBI-739624,EBI-714781
BTN2P532863EBI-739624,EBI-3796From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
BYSLQ138957EBI-739624,EBI-358049
C8orf33Q9H7E94EBI-739624,EBI-715389
CARD9Q9H2573EBI-739624,EBI-751319
CCDC94Q9BW855EBI-739624,EBI-10300345
CDC73Q6P1J99EBI-739624,EBI-930143
CDCA7LQ96GN55EBI-739624,EBI-5278764
CEP57L1Q8IYX83EBI-739624,EBI-1104570
CEP57L1Q8IYX8-23EBI-739624,EBI-10181988
CEP70Q8NHQ1-33EBI-739624,EBI-11526150
CFAP53Q96M913EBI-739624,EBI-742422
CLPBQ9H0783EBI-739624,EBI-2107221
COILP384323EBI-739624,EBI-945751
CSN12P471303EBI-739624,EBI-763From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
DDX41Q9UJV93EBI-739624,EBI-1046350
DDX6P261965EBI-739624,EBI-351257
DIEXFQ68CQ45EBI-739624,EBI-747711
ELOAQ142413EBI-739624,EBI-742350
EMDP504026EBI-739624,EBI-489887
EMP1P548493EBI-739624,EBI-4319440
ENKD1Q9H0I24EBI-739624,EBI-744099
ERCC3P194473EBI-739624,EBI-1183307
FAM124AQ86V423EBI-739624,EBI-744506
FAM133AQ8N9E05EBI-739624,EBI-10268158
FAM13CQ8NE313EBI-739624,EBI-751248
FAM161AQ3B8205EBI-739624,EBI-719941
FAM214BQ7L5A33EBI-739624,EBI-745689
GATAD2BQ8WXI93EBI-739624,EBI-923440
GCC1Q96CN95EBI-739624,EBI-746252
GCD7P325023EBI-11526150,EBI-6260From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
GPATCH2LQ9NWQ43EBI-739624,EBI-5666657
GPATCH4Q5T3I05EBI-739624,EBI-2372076
GPD2P419113EBI-739624,EBI-7791From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
GPX7Q96SL43EBI-739624,EBI-749411
HAUS1Q96CS23EBI-739624,EBI-2514791
HAUS1Q96CS2-23EBI-739624,EBI-11742270
HMGB4Q6NSH13EBI-739624,EBI-10250889
HMGB4Q8WW325EBI-739624,EBI-10277297
HSPD1P108096EBI-739624,EBI-352528
IKQ131233EBI-739624,EBI-713456
KANK2Q63ZY35EBI-739624,EBI-2556193
KANSL1Q7Z3B34EBI-739624,EBI-740244
KDM1AO603412EBI-739624,EBI-710124
KRT31Q153233EBI-739624,EBI-948001
LAMTOR5A0A0C4DGV45EBI-739624,EBI-10173304
LENG1Q96BZ85EBI-739624,EBI-726510
LENG8Q96PV63EBI-739624,EBI-739546
LIN37Q96GY33EBI-739624,EBI-748884
METTL17Q9H7H06EBI-739624,EBI-749353
METTL17Q9H7H0-23EBI-739624,EBI-11098807
MFAP1P550815EBI-739624,EBI-1048159
MMTAG2Q9BU764EBI-739624,EBI-742459
MRP4P329023EBI-739624,EBI-16248From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
NIPSNAP3AQ9UFN03EBI-739624,EBI-716291
NKAPD1Q6ZUT15EBI-739624,EBI-3920396
NKAPD1Q6ZUT1-23EBI-739624,EBI-10180231
NOL12Q9UGY13EBI-739624,EBI-716098
NOP2P460873EBI-739624,EBI-356811
NOP56Q124603EBI-739624,EBI-17148From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
NRIP1P485523EBI-739624,EBI-746484
NUSAP1Q9BXS63EBI-739624,EBI-2555618
PIBF1A0A087WUI63EBI-739624,EBI-11749468
PIMREGQ9BSJ66EBI-739624,EBI-2568609
PPIGQ134273EBI-739624,EBI-396072
PPP1R16BQ96T493EBI-739624,EBI-10293968
PRKRIP1Q9H8753EBI-739624,EBI-744488
PRP3Q033383EBI-739624,EBI-421From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
PRP4P200533EBI-739624,EBI-219From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
PRP45P280043EBI-739624,EBI-20640From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
PRPF31Q8WWY38EBI-739624,EBI-1567797
PSMA1P257865EBI-739624,EBI-359352
PXR1P533353EBI-739624,EBI-23652From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
RBM10P981755EBI-739624,EBI-721525
RFC2P403483EBI-739624,EBI-14992From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
RNF6A0A0S2Z4G93EBI-739624,EBI-16428950
RPL13P263733EBI-739624,EBI-356849
RPL13Q6NZ553EBI-739624,EBI-10252046
RRD1P404543EBI-739624,EBI-25278From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
SETD5Q9C0A6-23EBI-739624,EBI-10303449
SFR1Q86XK33EBI-739624,EBI-1104535
SGD1Q061323EBI-739624,EBI-34377From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
SH2D4AQ9H788-23EBI-739624,EBI-10308083
SLU7O953913EBI-739624,EBI-750559
SMARCE1Q969G35EBI-739624,EBI-455078
SNRPD2P623163EBI-739624,EBI-297993
SPP382Q064113EBI-739624,EBI-576From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
SSX3Q999093EBI-739624,EBI-10295431
STK25O005063EBI-739624,EBI-618295
SUV39H1O434633EBI-739624,EBI-349968
SYT17Q9BSW73EBI-739624,EBI-745392
SYTL4Q96C243EBI-739624,EBI-747142
SYTL5Q8TDW53EBI-739624,EBI-2939487
TAE1P383403EBI-11526150,EBI-21116From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
TAF1DQ9H5J84EBI-739624,EBI-716128
TEAD4A0A0S2Z4E53EBI-739624,EBI-16432288
TEAD4A0A0S2Z4F23EBI-739624,EBI-16429215
TEAD4D3DUQ63EBI-739624,EBI-10176734
TOM20P351803EBI-739624,EBI-12522From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
TRIM29Q141344EBI-739624,EBI-702370
TRIM42Q8IWZ53EBI-739624,EBI-5235829
TRX3P253723EBI-739624,EBI-19616From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
TSFMP438973EBI-739624,EBI-1049298
TSGA10IPQ3SY005EBI-739624,EBI-10241197
TSHZ3Q63HK53EBI-739624,EBI-9053916
TTC25Q96NG33EBI-739624,EBI-1046387
TTLL10Q6ZVT03EBI-739624,EBI-7844656
TXLNBQ8N3L35EBI-739624,EBI-6116822
ULP1Q027243EBI-739624,EBI-20050From Saccharomyces cerevisiae (strain ATCC 204508 / S288c).
UTP11Q9Y3A23EBI-739624,EBI-2876697
ZBTB16Q055163EBI-739624,EBI-711925
ZBTB24O431675EBI-739624,EBI-744471
ZBTB49Q6ZSB93EBI-739624,EBI-2859943
ZCCHC10Q8TBK63EBI-739624,EBI-597063
ZFC3H1G3V1X13EBI-739624,EBI-6448783
ZGPATA0A0S2Z6H03EBI-739624,EBI-16428984
ZGPATQ8N5A53EBI-739624,EBI-3439227
ZGPATQ8N5A5-28EBI-739624,EBI-10183064
ZNF136P527375EBI-739624,EBI-749129
ZNF148Q9UQR13EBI-739624,EBI-2688184
ZNF169Q149293EBI-739624,EBI-10234472
ZNF227Q86WZ65EBI-739624,EBI-2799529
ZNF239Q166005EBI-739624,EBI-8787052
ZNF266Q145845EBI-739624,EBI-7115319
ZNF302Q9NR113EBI-739624,EBI-3916142
ZNF329Q86UD45EBI-739624,EBI-7233259
ZNF366Q8N8955EBI-739624,EBI-2813661
ZNF408Q9H9D48EBI-739624,EBI-347633
ZNF410Q86VK43EBI-739624,EBI-720304
ZNF417Q8TAU35EBI-739624,EBI-740727
ZNF439Q8NDP43EBI-739624,EBI-747580
ZNF490Q9ULM25EBI-739624,EBI-1105370
ZNF555Q8NEP93EBI-739624,EBI-10270752
ZNF572Q7Z3I76EBI-739624,EBI-10172590
ZNF578Q3MI943EBI-739624,EBI-10241108
ZNF587Q96SQ55EBI-739624,EBI-6427977
ZNF688A0A0S2Z5X43EBI-739624,EBI-16429014
ZSCAN12O433093EBI-739624,EBI-1210440

GO - Molecular functioni

  • gamma-tubulin binding Source: InterPro
  • identical protein binding Source: IntAct
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi123234, 166 interactors
IntActiQ8NHQ1, 274 interactors
MINTiQ8NHQ1
STRINGi9606.ENSP00000264982

Structurei

3D structure databases

ProteinModelPortaliQ8NHQ1
SMRiQ8NHQ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati483 – 516TPRAdd BLAST34

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili75 – 179Sequence analysisAdd BLAST105
Coiled coili254 – 326Sequence analysisAdd BLAST73

Domaini

The coiled-coil domains may be important for tubulin-gamma-binding and hence for centrosomal localization.

Keywords - Domaini

Coiled coil, TPR repeat

Phylogenomic databases

eggNOGiENOG410IFWI Eukaryota
ENOG4111V7R LUCA
GeneTreeiENSGT00390000009029
HOGENOMiHOG000290163
HOVERGENiHBG050899
InParanoidiQ8NHQ1
KOiK16802
OMAiNVLLMMH
OrthoDBiEOG091G08G2
PhylomeDBiQ8NHQ1
TreeFamiTF330986

Family and domain databases

InterProiView protein in InterPro
IPR037692 CEP70
IPR013026 TPR-contain_dom
IPR019734 TPR_repeat
PANTHERiPTHR14594 PTHR14594, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 1 hit
PS50293 TPR_REGION, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NHQ1-1) [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
MFPVAPKPQD SSQPSDRLMT EKQQEEAEWE SINVLLMMHG LKPLSLVKRT 
        60         70         80         90        100
DLKDLIIFDK QSSQRMRQNL KLLVEETSCQ QNMIQELIET NQQLRNELQL 
       110        120        130        140        150
EQSRAANQEQ RANDLEQIME SVKSKIGELE DESLSRACHQ QNKIKDLQKE 
       160        170        180        190        200
QKTLQVKCQH YKKKRTEQEE TIASLQMEVC RLKKEEEDRI VTQNRVFAYL 
       210        220        230        240        250
CKRVPHTVLD RQLLCLIDYY ESKIRKIHTQ RQYKEDESQS EEENDYRNLD 
       260        270        280        290        300
ASPTYKGLLM SLQNQLKESK SKIDALSSEK LNLQKDLETR PTQHELRLYK 
       310        320        330        340        350
QQVKKLEKAL KKNVKLQELI NHKKAEDTEK KDEPSKYNQQ QALIDQRYFQ 
       360        370        380        390        400
VLCSINSIIH NPRAPVIIYK QTKGGVQNFN KDLVQDCGFE HLVPVIEMWA 
       410        420        430        440        450
DQLTSLKDLY KSLKTLSAEL VPWLNLKKQD ENEGIKVEDL LFIVDTMLEE 
       460        470        480        490        500
VENKEKDSNM PHFQTLQAIV SHFQKLFDVP SLNGVYPRMN EVYTRLGEMN 
       510        520        530        540        550
NAVRNLQELL ELDSSSSLCV LVSTVGKLCR LINEDVNEQV MQVLGPEDLQ 
       560        570        580        590 
SIIYKLEEHE EFFPAFQAFT NDLLEILEID DLDAIVPAVK KLKVLSY
Length:597
Mass (Da):69,752
Last modified:February 1, 2005 - v2
Checksum:i345EEEB9B1F0D6C7
GO
Isoform 2 (identifier: Q8NHQ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     551-554: SIIY → RYLF
     555-597: Missing.

Show »
Length:554
Mass (Da):64,880
Checksum:i995E0945339F20CA
GO
Isoform 3 (identifier: Q8NHQ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     213-597: Missing.

Show »
Length:212
Mass (Da):25,034
Checksum:i5E1C436C297C8CF3
GO
Isoform 4 (identifier: Q8NHQ1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: Missing.

Note: No experimental confirmation available.
Show »
Length:579
Mass (Da):67,770
Checksum:iAE654471BDE652DF
GO
Isoform 5 (identifier: Q8NHQ1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: Missing.
     22-23: Missing.

Note: No experimental confirmation available.
Show »
Length:577
Mass (Da):67,513
Checksum:iF4A66BB90BB75EAE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti52Missing in BAB14403 (PubMed:14702039).Curated1
Sequence conflicti293Q → L in BAH12924 (PubMed:14702039).Curated1
Sequence conflicti371Q → R in BAB14403 (PubMed:14702039).Curated1
Sequence conflicti385Q → R in BAH13584 (PubMed:14702039).Curated1
Sequence conflicti393V → A in BAH13584 (PubMed:14702039).Curated1
Sequence conflicti471S → P in AAG35616 (Ref. 1) Curated1
Sequence conflicti471S → P in AAG35791 (Ref. 1) Curated1
Sequence conflicti478D → G in AAG35616 (Ref. 1) Curated1
Sequence conflicti478D → G in AAG35791 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021177135S → N3 PublicationsCorresponds to variant dbSNP:rs1673607Ensembl.1
Natural variantiVAR_061590537N → S. Corresponds to variant dbSNP:rs35340237Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0421401 – 18Missing in isoform 4 and isoform 5. CuratedAdd BLAST18
Alternative sequenceiVSP_04214122 – 23Missing in isoform 5. Curated2
Alternative sequenceiVSP_012745213 – 597Missing in isoform 3. CuratedAdd BLAST385
Alternative sequenceiVSP_012746551 – 554SIIY → RYLF in isoform 2. 1 Publication4
Alternative sequenceiVSP_012747555 – 597Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF202146 mRNA Translation: AAG35616.1
AF289495 mRNA Translation: AAG35791.1
AK023098 mRNA Translation: BAB14403.1
AK299003 mRNA Translation: BAH12924.1
AK301913 mRNA Translation: BAH13584.1
AC020890 Genomic DNA No translation available.
AC072045 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79062.1
CH471052 Genomic DNA Translation: EAW79063.1
BC016050 mRNA Translation: AAH16050.1
BC030598 mRNA Translation: AAH30598.1
CCDSiCCDS3102.1 [Q8NHQ1-1]
CCDS75022.1 [Q8NHQ1-4]
CCDS75023.1 [Q8NHQ1-2]
CCDS82842.1 [Q8NHQ1-3]
RefSeqiNP_001275893.1, NM_001288964.1 [Q8NHQ1-4]
NP_001275894.1, NM_001288965.1 [Q8NHQ1-5]
NP_001275895.1, NM_001288966.1 [Q8NHQ1-2]
NP_001275896.1, NM_001288967.1
NP_001307527.1, NM_001320598.1 [Q8NHQ1-1]
NP_001307529.1, NM_001320600.1 [Q8NHQ1-3]
NP_077817.2, NM_024491.3 [Q8NHQ1-1]
XP_016862764.1, XM_017007275.1 [Q8NHQ1-1]
UniGeneiHs.531962

Genome annotation databases

EnsembliENST00000264982; ENSP00000264982; ENSG00000114107 [Q8NHQ1-1]
ENST00000464035; ENSP00000419743; ENSG00000114107 [Q8NHQ1-3]
ENST00000474781; ENSP00000419833; ENSG00000114107 [Q8NHQ1-4]
ENST00000481834; ENSP00000417465; ENSG00000114107 [Q8NHQ1-2]
ENST00000484888; ENSP00000419231; ENSG00000114107 [Q8NHQ1-1]
GeneIDi80321
KEGGihsa:80321
UCSCiuc003esl.5 human [Q8NHQ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCEP70_HUMAN
AccessioniPrimary (citable) accession number: Q8NHQ1
Secondary accession number(s): B7Z5I8
, B7Z7E8, D3DNE9, F5GZX8, Q96B31, Q9H2C3, Q9H2Z1, Q9H940
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: February 1, 2005
Last modified: July 18, 2018
This is version 139 of the entry and version 2 of the sequence. See 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 3
    Human chromosome 3: 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

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