• Gene id: 85462

Gene Summary

• Gene Symbol: FHDC1   Gene   UCSC   Ensembl
• Aliases: INF1
• Gene name: FH2 domain containing 1
• Alternate names: FH2 domain-containing protein 1, inverted formin-1,
• Gene location: 4q31.3 (151771953: 151812784)     Exons: 12     NC_000005.10

Protein Summary

• Protein general information: Q9C0D6  
  • Name: FH2 domain containing protein 1 (Inverted formin 1)
  • Length: 1143  
  • Mass: 124762
• Sequence:

  MHVMNCVSLVSDKENGNIATAPGFMIGQTPPPAPPPPPPPPPPSPPCSCSREECPSSPPPPPPPPLPGEPPIPPP
  PPGLPPTTHMNGYSHLGKKKRMRSFFWKTIPEEQVRGKTNIWTLAARQEHHYQIDTKTIEELFGQQEDTTKSSLP
  RRGRTLNSSFREAREEITILDAKRSMNIGIFLKQFKKSPRSIVEDIHQGKSEHYGSETLREFLKFLPESEEVKKL
  KAFSGDVSKLSLADSFLYGLIQVPNYSLRIEAMVLKKEFLPSCSSLYTDITVLRTAIKELMSCEELHSILHLVLQ
  AGNIMNAGGYAGNAVGFKLSSLLKLADTKANKPGMNLLHFVAQEAQKKDTILLNFSEKLHHVQKTARLSLENTEA
  ELHLLFVRTKSLKENIQRDGELCQQMEDFLQFAIEKLRELECWKQELQDEAYTLIDFFCEDKKTMKLDECFQIFR
  DFCTKFNKAVKDNHDREAQELRQLQRLKEQEQKQRSWATGELGAFGRSSSENDVELLTKKGAEGLLPFLHPRPIS
  PSSPSYRPPNTRRSRLSLGPSADRELLTFLESSTGSPEEPNKFHSLPRSSPRQARPTIACLEPAEVRHQDSSFAH
  KPQASGGQEEAPNPPSAQAHQLAAAQPENHASAFPRARRQGVSVLRKRYSEPVSLGSAQSPPLSPLALGIKEHEL
  VTGLAQFNLQGSQGMEETSQLTLSDFSPMELESVGHRGPQSLSASSSSLTPMGRDALGSLSPALEDGKAAPDEPG
  SAALGSVGSSDPENKDPRPLFCISDTTDCSLTLDCSEGTDSRPRGGDPEEGGEGDGSMSSGVGEMGDSQVSSNPT
  SSPPGEAPAPVSVDSEPSCKGGLPRDKPTKRKDVVAPKRGSLKEASPGASKPGSARRSQGAVAKSVRTLTASENE
  SMRKVMPITKSSRGAGWRRPELSSRGPSQNPPSSTDTVWSRQNSVRRASTGAEEQRLPRGSSGSSSTRPGRDVPL
  QPRGSFKKPSAKPLRNLPRQKPEENKTCRAHSEGPESPKEEPKTPSVPSVPHELPRVPSFARNTVASSSRSMRTD
  LPPVAKAPGITRTVSQRQLRVKGDPEDAAPKDSSTLRRASSARAPKKRPESAEGPSANTEAPLKARGAGERASLR
  RKDSSRTTLGRILNPLRK

• Structural information:
  • Protein Domains: (87..48-)
    (/note="FH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00774"-)
  • Interpro: IPR015425  IPR042201  
  • Prosite: PS51444
  • STRING: ENSP00000427567
• Other Databases: GeneCards:  FHDC1  Malacards:  FHDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005929	cilium	IDA	cellular component
GO:0043149	stress fiber assembly	IDA	biological process
GO:0005874	microtubule	IDA	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0008017	microtubule binding	ISS	molecular function
GO:0003779	actin binding	ISS	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0090161	Golgi ribbon formation	IMP	biological process
GO:0005881	cytoplasmic microtubule	ISS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0090161	Golgi ribbon formation	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005881	cytoplasmic microtubule	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq