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Protein

FERM domain-containing protein 1

Gene

FRMD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
FERM domain-containing protein 1
Gene namesi
Name:FRMD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21240. FRMD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134993010.

Polymorphism and mutation databases

BioMutaiFRMD1.
DMDMi110808243.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 549549FERM domain-containing protein 1PRO_0000247364Add
BLAST

Proteomic databases

PaxDbiQ8N878.
PRIDEiQ8N878.

PTM databases

iPTMnetiQ8N878.
PhosphoSiteiQ8N878.

Expressioni

Gene expression databases

BgeeiQ8N878.
CleanExiHS_FRMD1.
ExpressionAtlasiQ8N878. baseline and differential.
GenevisibleiQ8N878. HS.

Organism-specific databases

HPAiHPA030346.
HPA030347.

Interactioni

Protein-protein interaction databases

BioGridi123046. 45 interactions.
STRINGi9606.ENSP00000283309.

Structurei

3D structure databases

ProteinModelPortaliQ8N878.
SMRiQ8N878. Positions 65-369.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini54 – 369316FERMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4371. Eukaryota.
ENOG410XSKD. LUCA.
GeneTreeiENSGT00840000129875.
HOGENOMiHOG000294082.
HOVERGENiHBG081539.
InParanoidiQ8N878.
KOiK16821.
OMAiCPFRSRH.
OrthoDBiEOG7PGDQ8.
PhylomeDBiQ8N878.
TreeFamiTF319780.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR018980. FERM_PH-like_C.
IPR011993. PH_dom-like.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50057. FERM_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N878-1) [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
MAVPPRGRGI DPARTNPDTF PPSGARCMEP SPERPACSQQ EPTLGMDAMA
60 70 80 90 100
SEHRDVLVLL PSREQLRLAV GVKATGRELF QQVCNVASIR DAQFFGLCVV
110 120 130 140 150
RNNEYIFMDL EQKLSKYFSK DWKKERNEGN EKPRAPFVAF LRVQHYVENG
160 170 180 190 200
RVISDHRARH LYYCHLKERV LRSQCAHREE AYFLLAACAL QADLGEHRES
210 220 230 240 250
AHAGRYFEPH SYFPQWIITK RGIDYILRHM PTLHRERQGL SPKEAMLCFI
260 270 280 290 300
QEACRLEDVP VHFFRLHKDK KEGRPTVILG LALRGVHIYQ GKKLEIQLDG
310 320 330 340 350
LPAAQKLVYY TGCTWRSRHL LHLLRASHQL HLRVRPTLQQ LRQREEAEEK
360 370 380 390 400
QHYRESYISD ELELDLASRS FPGSGVSSQH CPHCLSRHSA DSHGSSYTSG
410 420 430 440 450
IKANSWLRES REMSVDVPLE VHGLHEKEPS SSPRTSRSHP STRGDSQATR
460 470 480 490 500
QEPCTQVRTR GQSAEAVHQI QEMTAGVSEE QHSHGLDDMQ LHQLALHPAP
510 520 530 540
TSLSHTFHRA LDCRLAGPCE TRATLPSKRS SNCLALDLFG EAPPQEFVV
Length:549
Mass (Da):62,523
Last modified:July 25, 2006 - v2
Checksum:iE64A1E3B9F48B0B7
GO
Isoform 2 (identifier: Q8N878-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MAVPPRGRGIDPARTNPDTFPPSGARCMEPSPERPACSQQEPTLGMDAMASEHRDVLVLLPSREQLRLAVG → MDD

Show »
Length:481
Mass (Da):55,236
Checksum:i05DA699324A5B7D8
GO

Sequence cautioni

The sequence CAB61397.2 differs from that shown.Intron retention.Curated
The sequence CAI12329.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741R → C.
Corresponds to variant rs902393 [ dbSNP | Ensembl ].
VAR_027099
Natural varianti456 – 4561Q → E.2 Publications
Corresponds to variant rs1548349 [ dbSNP | Ensembl ].
VAR_027100

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7171MAVPP…RLAVG → MDD in isoform 2. 1 PublicationVSP_041267Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097179 mRNA. Translation: BAC04972.1.
AK097579 mRNA. Translation: BAG53488.1.
AL133077 mRNA. Translation: CAB61397.2. Sequence problems.
AL589733 Genomic DNA. Translation: CAI12329.1. Sequence problems.
BC137144 mRNA. Translation: AAI37145.1.
CCDSiCCDS47518.1. [Q8N878-2]
CCDS5306.1. [Q8N878-1]
PIRiT42674.
RefSeqiNP_001116313.1. NM_001122841.2. [Q8N878-2]
NP_079195.3. NM_024919.4. [Q8N878-1]
XP_011534448.1. XM_011536146.1.
UniGeneiHs.266746.
Hs.739361.

Genome annotation databases

EnsembliENST00000283309; ENSP00000283309; ENSG00000153303. [Q8N878-1]
ENST00000440994; ENSP00000414115; ENSG00000153303. [Q8N878-2]
GeneIDi79981.
KEGGihsa:79981.
UCSCiuc003qwn.6. human. [Q8N878-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097179 mRNA. Translation: BAC04972.1.
AK097579 mRNA. Translation: BAG53488.1.
AL133077 mRNA. Translation: CAB61397.2. Sequence problems.
AL589733 Genomic DNA. Translation: CAI12329.1. Sequence problems.
BC137144 mRNA. Translation: AAI37145.1.
CCDSiCCDS47518.1. [Q8N878-2]
CCDS5306.1. [Q8N878-1]
PIRiT42674.
RefSeqiNP_001116313.1. NM_001122841.2. [Q8N878-2]
NP_079195.3. NM_024919.4. [Q8N878-1]
XP_011534448.1. XM_011536146.1.
UniGeneiHs.266746.
Hs.739361.

3D structure databases

ProteinModelPortaliQ8N878.
SMRiQ8N878. Positions 65-369.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123046. 45 interactions.
STRINGi9606.ENSP00000283309.

PTM databases

iPTMnetiQ8N878.
PhosphoSiteiQ8N878.

Polymorphism and mutation databases

BioMutaiFRMD1.
DMDMi110808243.

Proteomic databases

PaxDbiQ8N878.
PRIDEiQ8N878.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283309; ENSP00000283309; ENSG00000153303. [Q8N878-1]
ENST00000440994; ENSP00000414115; ENSG00000153303. [Q8N878-2]
GeneIDi79981.
KEGGihsa:79981.
UCSCiuc003qwn.6. human. [Q8N878-1]

Organism-specific databases

CTDi79981.
GeneCardsiFRMD1.
H-InvDBHIX0006384.
HGNCiHGNC:21240. FRMD1.
HPAiHPA030346.
HPA030347.
neXtProtiNX_Q8N878.
PharmGKBiPA134993010.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4371. Eukaryota.
ENOG410XSKD. LUCA.
GeneTreeiENSGT00840000129875.
HOGENOMiHOG000294082.
HOVERGENiHBG081539.
InParanoidiQ8N878.
KOiK16821.
OMAiCPFRSRH.
OrthoDBiEOG7PGDQ8.
PhylomeDBiQ8N878.
TreeFamiTF319780.

Miscellaneous databases

GenomeRNAii79981.
PROiQ8N878.

Gene expression databases

BgeeiQ8N878.
CleanExiHS_FRMD1.
ExpressionAtlasiQ8N878. baseline and differential.
GenevisibleiQ8N878. HS.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR018980. FERM_PH-like_C.
IPR011993. PH_dom-like.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS50057. FERM_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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.
    , 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 2), VARIANT GLU-456.
    Tissue: Spleen and Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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), VARIANT GLU-456.
    Tissue: Testis.

Entry informationi

Entry nameiFRMD1_HUMAN
AccessioniPrimary (citable) accession number: Q8N878
Secondary accession number(s): B2RNV8
, B3KUM6, Q5SZU7, Q9UFB0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 25, 2006
Last modified: June 8, 2016
This is version 112 of the entry and version 2 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 6
    Human chromosome 6: 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. 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.