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Protein

Microfibrillar-associated protein 3-like

Gene

MFAP3L

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

Functioni

May participate in the nuclear signaling of EGFR and MAPK1/ERK2. May a have a role in metastasis.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Microfibrillar-associated protein 3-like
Alternative name(s):
Testis development protein NYD-SP91 Publication
Gene namesi
Name:MFAP3L
Synonyms:KIAA0626
ORF Names:HSD-39, HSD39
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:29083. MFAP3L.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini29 – 149121ExtracellularSequence analysisAdd
BLAST
Transmembranei150 – 17223HelicalSequence analysisAdd
BLAST
Topological domaini173 – 409237CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • nucleus Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134974574.

Polymorphism and mutation databases

BioMutaiMFAP3L.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828Sequence analysisAdd
BLAST
Chaini29 – 409381Microfibrillar-associated protein 3-likePRO_0000014869Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi33 – 331N-linked (GlcNAc...)Sequence analysis
Glycosylationi37 – 371N-linked (GlcNAc...)Sequence analysis
Glycosylationi67 – 671N-linked (GlcNAc...)Sequence analysis
Disulfide bondi68 ↔ 125PROSITE-ProRule annotation
Glycosylationi111 – 1111N-linked (GlcNAc...)Sequence analysis
Glycosylationi135 – 1351N-linked (GlcNAc...)Sequence analysis
Modified residuei287 – 2871Phosphotyrosine; by EGFR1 Publication
Modified residuei298 – 2981PhosphoserineBy similarity
Modified residuei303 – 3031PhosphoserineBy similarity
Modified residuei306 – 3061PhosphoserineBy similarity
Modified residuei307 – 3071PhosphoserineBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO75121.
PaxDbiO75121.
PeptideAtlasiO75121.
PRIDEiO75121.

PTM databases

iPTMnetiO75121.
PhosphoSiteiO75121.

Expressioni

Tissue specificityi

Highly expressed in testis.1 Publication

Gene expression databases

BgeeiENSG00000198948.
CleanExiHS_MFAP3L.
ExpressionAtlasiO75121. baseline and differential.
GenevisibleiO75121. HS.

Organism-specific databases

HPAiHPA017986.

Structurei

3D structure databases

ProteinModelPortaliO75121.
SMRiO75121. Positions 49-160.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini47 – 14195Ig-like C2-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE5Z. Eukaryota.
ENOG410XPPH. LUCA.
GeneTreeiENSGT00390000011576.
HOVERGENiHBG052463.
InParanoidiO75121.
OMAiWYNSVGK.
OrthoDBiEOG091G0BD8.
PhylomeDBiO75121.
TreeFamiTF333205.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF07679. I-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75121-1) [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
MDRLKSHLTV CFLPSVPFLI LVSTLATAKS VTNSTLNGTN VVLGSVPVII
60 70 80 90 100
ARTDHIIVKE GNSALINCSV YGIPDPQFKW YNSIGKLLKE EEDEKERGGG
110 120 130 140 150
KWQMHDSGLL NITKVSFSDR GKYTCVASNI YGTVNNTVTL RVIFTSGDMG
160 170 180 190 200
VYYMVVCLVA FTIVMVLNIT RLCMMSSHLK KTEKAINEFF RTEGAEKLQK
210 220 230 240 250
AFEIAKRIPI ITSAKTLELA KVTQFKTMEF ARYIEELARS VPLPPLIMNC
260 270 280 290 300
RTIMEEIMEV VGLEEQGQNF VRHTPEGQEA ADRDEVYTIP NSLKRSDSPA
310 320 330 340 350
ADSDASSLHE QPQQIAIKVS VHPQSKKEHA DDQEGGQFEV KDVEETELSA
360 370 380 390 400
EHSPETAEPS TDVTSTELTS EEPTPVEVPD KVLPPAYLEA TEPAVTHDKN

TCIIYESHV
Length:409
Mass (Da):45,380
Last modified:July 19, 2004 - v3
Checksum:i47965B61C0F8A3AA
GO
Isoform 2 (identifier: O75121-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-103: Missing.

Show »
Length:306
Mass (Da):34,099
Checksum:iBAB22A47F60B44B3
GO
Isoform 3 (identifier: O75121-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-102: KW → RL
     103-409: Missing.

Show »
Length:102
Mass (Da):11,126
Checksum:i2E451CF8734B849F
GO

Sequence cautioni

The sequence BAA31601 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti362 – 3621D → N in AAS55434 (Ref. 2) Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 103103Missing in isoform 2. 2 PublicationsVSP_011100Add
BLAST
Alternative sequencei101 – 1022KW → RL in isoform 3. 1 PublicationVSP_014094
Alternative sequencei103 – 409307Missing in isoform 3. 1 PublicationVSP_014095Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327560 mRNA. Translation: AAK15700.1.
AY391838 mRNA. Translation: AAS55434.1.
AB014526 mRNA. Translation: BAA31601.2. Different initiation.
AK290041 mRNA. Translation: BAF82730.1.
AC084866 Genomic DNA. Translation: AAY41028.1.
AC084866 Genomic DNA. Translation: AAY41029.1.
CH471056 Genomic DNA. Translation: EAX04773.1.
CH471056 Genomic DNA. Translation: EAX04774.1.
CH471056 Genomic DNA. Translation: EAX04775.1.
BC001279 mRNA. Translation: AAH01279.1.
BC066912 mRNA. Translation: AAH66912.1.
CCDSiCCDS34103.1. [O75121-1]
CCDS43281.1. [O75121-2]
RefSeqiNP_001009554.1. NM_001009554.3. [O75121-2]
NP_001288576.1. NM_001301647.1. [O75121-2]
NP_001288577.1. NM_001301648.1. [O75121-2]
NP_067679.6. NM_021647.7. [O75121-1]
XP_005263425.1. XM_005263368.3. [O75121-2]
UniGeneiHs.593942.
Hs.733667.

Genome annotation databases

EnsembliENST00000361618; ENSP00000354583; ENSG00000198948. [O75121-1]
ENST00000393702; ENSP00000377305; ENSG00000198948. [O75121-3]
ENST00000393704; ENSP00000377307; ENSG00000198948. [O75121-2]
ENST00000506110; ENSP00000422571; ENSG00000198948. [O75121-3]
GeneIDi9848.
KEGGihsa:9848.
UCSCiuc003isn.4. human. [O75121-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327560 mRNA. Translation: AAK15700.1.
AY391838 mRNA. Translation: AAS55434.1.
AB014526 mRNA. Translation: BAA31601.2. Different initiation.
AK290041 mRNA. Translation: BAF82730.1.
AC084866 Genomic DNA. Translation: AAY41028.1.
AC084866 Genomic DNA. Translation: AAY41029.1.
CH471056 Genomic DNA. Translation: EAX04773.1.
CH471056 Genomic DNA. Translation: EAX04774.1.
CH471056 Genomic DNA. Translation: EAX04775.1.
BC001279 mRNA. Translation: AAH01279.1.
BC066912 mRNA. Translation: AAH66912.1.
CCDSiCCDS34103.1. [O75121-1]
CCDS43281.1. [O75121-2]
RefSeqiNP_001009554.1. NM_001009554.3. [O75121-2]
NP_001288576.1. NM_001301647.1. [O75121-2]
NP_001288577.1. NM_001301648.1. [O75121-2]
NP_067679.6. NM_021647.7. [O75121-1]
XP_005263425.1. XM_005263368.3. [O75121-2]
UniGeneiHs.593942.
Hs.733667.

3D structure databases

ProteinModelPortaliO75121.
SMRiO75121. Positions 49-160.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiO75121.
PhosphoSiteiO75121.

Polymorphism and mutation databases

BioMutaiMFAP3L.

Proteomic databases

MaxQBiO75121.
PaxDbiO75121.
PeptideAtlasiO75121.
PRIDEiO75121.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361618; ENSP00000354583; ENSG00000198948. [O75121-1]
ENST00000393702; ENSP00000377305; ENSG00000198948. [O75121-3]
ENST00000393704; ENSP00000377307; ENSG00000198948. [O75121-2]
ENST00000506110; ENSP00000422571; ENSG00000198948. [O75121-3]
GeneIDi9848.
KEGGihsa:9848.
UCSCiuc003isn.4. human. [O75121-1]

Organism-specific databases

CTDi9848.
GeneCardsiMFAP3L.
H-InvDBHIX0004635.
HGNCiHGNC:29083. MFAP3L.
HPAiHPA017986.
neXtProtiNX_O75121.
PharmGKBiPA134974574.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE5Z. Eukaryota.
ENOG410XPPH. LUCA.
GeneTreeiENSGT00390000011576.
HOVERGENiHBG052463.
InParanoidiO75121.
OMAiWYNSVGK.
OrthoDBiEOG091G0BD8.
PhylomeDBiO75121.
TreeFamiTF333205.

Miscellaneous databases

ChiTaRSiMFAP3L. human.
GenomeRNAii9848.
PROiO75121.

Gene expression databases

BgeeiENSG00000198948.
CleanExiHS_MFAP3L.
ExpressionAtlasiO75121. baseline and differential.
GenevisibleiO75121. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF07679. I-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMFA3L_HUMAN
AccessioniPrimary (citable) accession number: O75121
Secondary accession number(s): A8K1X6
, D3DP35, Q4W5N7, Q4W5N9, Q6TNA8, Q9BVE1, Q9BXK0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: September 7, 2016
This is version 137 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

Caution

Protein kinase activity is reported (PubMed:24735981). However, no protein kinase domain is detected by any prediction method (PROSITE, Pfam). Its enzyme activity is therefore unsure.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.