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Protein
Submitted name:

Myoferlin

Gene

MYOF

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

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Submitted name:
MyoferlinImported
Gene namesi
Name:MYOFImported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000138119.16
HGNCiHGNC:3656 MYOF

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000138119

PTM / Processingi

Proteomic databases

MaxQBiH0YD14
PeptideAtlasiH0YD14
PRIDEiH0YD14

Expressioni

Gene expression databases

BgeeiENSG00000138119 Expressed in 227 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiH0YD14 baseline and differential

Structurei

3D structure databases

ProteinModelPortaliH0YD14
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini501 – 606C2InterPro annotationAdd BLAST106
Domaini932 – 1032C2InterPro annotationAdd BLAST101

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili122 – 142Sequence analysisAdd BLAST21
Coiled coili403 – 423Sequence analysisAdd BLAST21

Keywords - Domaini

Coiled coilSequence analysis

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00550000074414

Family and domain databases

CDDicd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR029999 Myoferlin
IPR006614 Peroxin/Ferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF55 PTHR12546:SF55, 1 hit
PfamiView protein in Pfam
PF00168 C2, 3 hits
PF08165 FerA, 1 hit
PF08150 FerB, 1 hit
SMARTiView protein in SMART
SM00239 C2, 3 hits
SM00694 DysFC, 2 hits
SM00693 DysFN, 2 hits
SM01200 FerA, 1 hit
SM01201 FerB, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits

Sequence (1+)i

Sequence statusi: Fragment.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

H0YD14-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
XNYYYYLPWA HTKPVVTLTS YWEDISHRLD AVNTLLAMAE RLQTNIEALK
60 70 80 90 100
SGIQGKIPAN QLAELWLKLI DEVIEDTRYT LPLTEGKANV TVLDTQIRKL
110 120 130 140 150
RSRSLSQIHE AAVRMRSEAT DVKSTLAEIE DWLDKLMQLT EEPQNSMPDI
160 170 180 190 200
IIWMIRGEKR LAYARIPAHQ VLYSTSGENA SGKYCGKTQT IFLKYPQEKN
210 220 230 240 250
NGPKVPVELR VNIWLGLSAV EKKFNSFAEG TFTVFAEMYE NQALMFGKWG
260 270 280 290 300
TSGLVGRHKF SDVTGKIKLK REFFLPPKGW EWEGEWIVDP ERSLLTEADA
310 320 330 340 350
GHTEFTDEVY QNESRYPGGD WKPAEDTYTD ANGDKAASPS ELTCPPGWEW
360 370 380 390 400
EDDAWSYDIN RAVDEKGWEY GITIPPDHKP KSWVAAEKMY HTHRRRRLVR
410 420 430 440 450
KRKKDLTQTA SSTARAMEEL QDQEGWEYAS LIGWKFHWKQ RSSDTFRRRR
460 470 480 490 500
WRRKMAPSET HGAAAIFKLE GALGADTTED GDEKSLEKQK HSATTVFGAN
510 520 530 540 550
TPIVSCNFDR VYIYHLRCYV YQARNLLALD KDSFSDPYAH ICFLHRSKTT
560 570 580 590 600
EIIHSTLNPT WDQTIIFDEV EIYGEPQTVL QNPPKVIMEL FDNDQVGKDE
610 620 630 640 650
FLGRSIFSPV VKLNSEMDIT PKLLWHPVMN GDKACGDVLV TAELILRGKD
660 670 680 690 700
GSNLPILPPQ RAPNLYMVPQ GIRPVVQLTA IEILAWGLRN MKNFQMASIT
710 720 730 740 750
SPSLVVECGG ERVESVVIKN LKKTPNFPSS VLFMKVFLPK EELYMPPLVI
760 770 780 790 800
KVIDHRQFGR KPVVGQCTIE RLDRFRCDPY AGKEDIVPQL KASLLSAPPC
810 820 830 840 850
RDIVIEMEDT KPLLASKCLS SMSTALSKMA SPATVHLTEK EEEIVDWWSK
860 870 880 890 900
FYASSGEHEK CGQYIQKGYS KLKIYNCELE NVAEFEGLTD FSDTFKLYRG
910 920 930 940 950
KSDENEDPSV VGEFKGSFRI YPLPDDPSVP APPRQFRELP DSVPQECTVR
960 970 980 990 1000
IYIVRGLELQ PQDNNGLCDP YIKITLGKKV IEDRDHYIPN TLNPVFGRMY
1010 1020 1030 1040 1050
ELSCYLPQEK DLKISVYDYD TFTRDEKVGE TIIDLENRFL SRFGSHCGIP
1060 1070 1080 1090 1100
EEYCVSGVNT WRDQLRPTQL LQNVARFKGF PQPILSEDGS RIRYGGRDYS
1110 1120 1130 1140 1150
LDEFEANKIL HQHLGAPEER LALHILRTQG LVPEHVETRT LHSTFQPNIS
1160 1170
QILPACDHLE HQGRYLGREK HHRRGNE
Length:1,177
Mass (Da):134,823
Last modified:February 22, 2012 - v1
Checksum:i8D6EF677ACDEE203
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9NZM1MYOF_HUMAN
Myoferlin
MYOF FER1L3, KIAA1207
2,061Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Non-terminal residuei1Imported1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL360229 Genomic DNA No translation available.
AL365364 Genomic DNA No translation available.

Genome annotation databases

EnsembliENST00000463743; ENSP00000432708; ENSG00000138119
UCSCiuc057uwv.1 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL360229 Genomic DNA No translation available.
AL365364 Genomic DNA No translation available.

3D structure databases

ProteinModelPortaliH0YD14
ModBaseiSearch...
MobiDBiSearch...

Proteomic databases

MaxQBiH0YD14
PeptideAtlasiH0YD14
PRIDEiH0YD14

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000463743; ENSP00000432708; ENSG00000138119
UCSCiuc057uwv.1 human

Organism-specific databases

EuPathDBiHostDB:ENSG00000138119.16
HGNCiHGNC:3656 MYOF
OpenTargetsiENSG00000138119
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1326 Eukaryota
ENOG410XPT2 LUCA
GeneTreeiENSGT00550000074414

Miscellaneous databases

ChiTaRSiMYOF human

Gene expression databases

BgeeiENSG00000138119 Expressed in 227 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiH0YD14 baseline and differential

Family and domain databases

CDDicd04017 C2D_Ferlin, 1 hit
cd04037 C2E_Ferlin, 1 hit
Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037723 C2D_Ferlin
IPR037724 C2E_Ferlin
IPR037721 Ferlin
IPR012560 Ferlin_A-domain
IPR012561 Ferlin_B-domain
IPR029999 Myoferlin
IPR006614 Peroxin/Ferlin
PANTHERiPTHR12546 PTHR12546, 1 hit
PTHR12546:SF55 PTHR12546:SF55, 1 hit
PfamiView protein in Pfam
PF00168 C2, 3 hits
PF08165 FerA, 1 hit
PF08150 FerB, 1 hit
SMARTiView protein in SMART
SM00239 C2, 3 hits
SM00694 DysFC, 2 hits
SM00693 DysFN, 2 hits
SM01200 FerA, 1 hit
SM01201 FerB, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiH0YD14_HUMAN
AccessioniPrimary (citable) accession number: H0YD14
Entry historyiIntegrated into UniProtKB/TrEMBL: February 22, 2012
Last sequence update: February 22, 2012
Last modified: September 12, 2018
This is version 43 of the entry and version 1 of the sequence. See complete history.
Entry statusiUnreviewed (UniProtKB/TrEMBL)
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, Proteomics identificationCombined sources, Reference proteomeImported
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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